nsv4383886
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:32
- Validation:Not tested
- Clinical Assertions: No
- Region Size:28,792
- 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: 901 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 901 SVs from 85 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4383886 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nsv4383886 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15612675 | copy number gain | 1-0641-003 | SNP array | Genotyping | 20 |
nssv15618351 | copy number gain | 1-0866-003 | SNP array | Genotyping | 14 |
nssv15618379 | copy number gain | 1-0868-003 | SNP array | Genotyping | 29 |
nssv15622540 | copy number gain | 1-0219-004 | SNP array | Genotyping | 20 |
nssv15631178 | copy number loss | 1-0606-003 | SNP array | Genotyping | 22 |
nssv15651505 | copy number gain | 2-1437-004 | SNP array | Genotyping | 28 |
nssv15651615 | copy number gain | 2-1526-004 | SNP array | Genotyping | 17 |
nssv15652045 | copy number gain | 2-1508-004 | SNP array | Genotyping | 24 |
nssv15654577 | copy number gain | 2-1738-003 | SNP array | Genotyping | 22 |
nssv15654701 | copy number gain | 3-0193-000 | SNP array | Genotyping | 19 |
nssv15656464 | copy number gain | 2-1719-003 | SNP array | Genotyping | 19 |
nssv15656733 | copy number gain | 3-0508-000 | SNP array | Genotyping | 20 |
nssv15659866 | copy number gain | 4-0075-001 | SNP array | Genotyping | 28 |
nssv15660177 | copy number loss | 3-0655-000 | SNP array | Genotyping | 17 |
nssv15662367 | copy number gain | 4-0083-003 | SNP array | Genotyping | 20 |
nssv15662470 | copy number gain | 5-0049-003 | SNP array | Genotyping | 27 |
nssv15664168 | copy number loss | 7-0037-003 | SNP array | Genotyping | 18 |
nssv15665768 | copy number gain | 7-0094-003 | SNP array | Genotyping | 24 |
nssv15666576 | copy number gain | 7-0123-003 | SNP array | Genotyping | 23 |
nssv15670269 | copy number gain | 7-0291-003 | SNP array | Genotyping | 23 |
nssv15684643 | copy number gain | OCD152-TM-106 | SNP array | Genotyping | 18 |
nssv15686107 | copy number gain | OCD180-LM-356-1756 | SNP array | Genotyping | 14 |
nssv15687627 | copy number gain | OCD172-GW-376_1811 | SNP array | Genotyping | 22 |
nssv15689481 | copy number gain | OCD105-1617 | SNP array | Genotyping | 16 |
nssv15689594 | copy number gain | OCD1114-896263 | SNP array | Genotyping | 17 |
nssv15690435 | copy number gain | OCD143-DH-1299(189273) | SNP array | Genotyping | 21 |
nssv15691601 | copy number gain | OCD57-0625-9923-1 | SNP array | Genotyping | 18 |
nssv15693439 | copy number gain | OCD7-S_896132 | SNP array | Genotyping | 24 |
nssv15696761 | copy number gain | 216810 | SNP array | Genotyping | 25 |
nssv15697112 | copy number gain | 198727 | SNP array | Genotyping | 18 |
nssv15700742 | copy number gain | 180793 | SNP array | Genotyping | 15 |
nssv15701834 | copy number gain | 199154 | SNP array | Genotyping | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15612675 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15618351 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15618379 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15622540 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15631178 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15651505 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15651615 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15652045 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15654577 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15654701 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15656464 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15656733 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15659866 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15660177 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15662367 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15662470 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15664168 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15665768 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15666576 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15670269 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15684643 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15686107 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15687627 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15689481 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15689594 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15690435 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15691601 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15693439 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15696761 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15697112 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15700742 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15701834 | Remapped | Perfect | NC_000014.9:g.(?_7 3534407)_(73563198 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,407 | 73,563,198 |
nssv15612675 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15618351 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15618379 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15622540 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15631178 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15651505 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15651615 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15652045 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15654577 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15654701 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15656464 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15656733 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15659866 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15660177 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15662367 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15662470 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15664168 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15665768 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15666576 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15670269 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15684643 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15686107 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15687627 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15689481 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15689594 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15690435 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15691601 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15693439 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15696761 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15697112 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15700742 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 | ||
nssv15701834 | Submitted genomic | NC_000014.8:g.(?_7 4001111)_(74029902 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,001,111 | 74,029,902 |