nsv4388509
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:40
- Validation:Not tested
- Clinical Assertions: No
- Region Size:86,227
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1549 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1549 SVs from 100 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4388509 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nsv4388509 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 294,911 | 381,137 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15611904 | copy number gain | 1-0112-003 | SNP array | Genotyping | 23 |
nssv15612759 | copy number gain | 1-0651-003 | SNP array | Genotyping | 31 |
nssv15615817 | copy number gain | 1-0785-003 | SNP array | Genotyping | 13 |
nssv15616451 | copy number gain | 1-0825-001 | SNP array | Genotyping | 25 |
nssv15619462 | copy number gain | 1-0923-003 | SNP array | Genotyping | 15 |
nssv15620183 | copy number gain | 1-0951-003 | SNP array | Genotyping | 25 |
nssv15621419 | copy number gain | 1-1015-003 | SNP array | Genotyping | 22 |
nssv15623210 | copy number gain | 1-0224-003 | SNP array | Genotyping | 23 |
nssv15624285 | copy number gain | 1-0263-002 | SNP array | Genotyping | 24 |
nssv15624552 | copy number gain | 1-0299-003 | SNP array | Genotyping | 19 |
nssv15624571 | copy number gain | 1-0299-004 | SNP array | Genotyping | 17 |
nssv15625448 | copy number gain | 1-0414-001 | SNP array | Genotyping | 15 |
nssv15629281 | copy number gain | 1-0539-004 | SNP array | Genotyping | 22 |
nssv15633160 | copy number gain | 11-0008-003 | SNP array | Genotyping | 23 |
nssv15633739 | copy number gain | 12-4168-003 | SNP array | Genotyping | 31 |
nssv15643546 | copy number gain | 16-1013-003 | SNP array | Genotyping | 14 |
nssv15648927 | copy number gain | 2-1094-002 | SNP array | Genotyping | 26 |
nssv15650605 | copy number gain | 2-1336-002 | SNP array | Genotyping | 17 |
nssv15650760 | copy number gain | 2-1363-003 | SNP array | Genotyping | 26 |
nssv15653453 | copy number gain | 2-1559-004 | SNP array | Genotyping | 18 |
nssv15654078 | copy number gain | 2-1690-002 | SNP array | Genotyping | 24 |
nssv15655250 | copy number gain | 2-1711-003 | SNP array | Genotyping | 17 |
nssv15658645 | copy number gain | 3-0542-000 | SNP array | Genotyping | 16 |
nssv15659917 | copy number gain | 5-0001-002 | SNP array | Genotyping | 23 |
nssv15662729 | copy number gain | 5-0134-001 | SNP array | Genotyping | 23 |
nssv15668747 | copy number gain | 7-0216-003 | SNP array | Genotyping | 26 |
nssv15668802 | copy number gain | 7-0228-003 | SNP array | Genotyping | 18 |
nssv15671216 | copy number gain | 7-0274-003 | SNP array | Genotyping | 15 |
nssv15675752 | copy number gain | 172009 | SNP array | Genotyping | 26 |
nssv15679611 | copy number gain | 182123 | SNP array | Genotyping | 24 |
nssv15679915 | copy number gain | 211602 | SNP array | Genotyping | 24 |
nssv15685973 | copy number gain | OCD173-WH-1775 | SNP array | Genotyping | 13 |
nssv15686993 | copy number gain | OCD38-S_0625-1127-2 | SNP array | Genotyping | 18 |
nssv15687696 | copy number gain | OCD173-AH-364_1774 | SNP array | Genotyping | 19 |
nssv15690135 | copy number gain | OCD126-896903 | SNP array | Genotyping | 19 |
nssv15691682 | copy number gain | OCD75-JB-1215 | SNP array | Genotyping | 23 |
nssv15691703 | copy number gain | OCD75-SB-1213 | SNP array | Genotyping | 18 |
nssv15691900 | copy number gain | OCD82-896792 | SNP array | Genotyping | 27 |
nssv15693581 | copy number gain | OCD94-JW-1490 | SNP array | Genotyping | 21 |
nssv15696529 | copy number gain | 159785 | SNP array | Genotyping | 19 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15611904 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15612759 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15615817 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15616451 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15619462 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15620183 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15621419 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15623210 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15624285 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15624552 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15624571 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15625448 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15629281 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15633160 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15633739 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15643546 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15648927 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15650605 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15650760 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15653453 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15654078 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15655250 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15658645 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15659917 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15662729 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15668747 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15668802 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15671216 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15675752 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15679611 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15679915 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15685973 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15686993 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15687696 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15690135 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15691682 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15691703 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15691900 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15693581 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15696529 | Remapped | Perfect | NC_000006.12:g.(?_ 294911)_(381137_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 294,911 | 381,137 |
nssv15611904 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15612759 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15615817 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15616451 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15619462 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15620183 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15621419 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15623210 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15624285 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15624552 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15624571 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15625448 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15629281 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15633160 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15633739 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15643546 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15648927 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15650605 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15650760 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15653453 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15654078 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15655250 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15658645 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15659917 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15662729 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15668747 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15668802 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15671216 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15675752 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15679611 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15679915 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15685973 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15686993 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15687696 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15690135 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15691682 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15691703 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15691900 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15693581 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 | ||
nssv15696529 | Submitted genomic | NC_000006.11:g.(?_ 294911)_(381137_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 294,911 | 381,137 |