nsv4383038
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:55,904
- 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: 710 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 710 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383038 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nsv4383038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615689 | copy number loss | 1-0760-003 | SNP array | Genotyping | 22 |
| nssv15631786 | copy number loss | 10-0015-002 | SNP array | Genotyping | 17 |
| nssv15634247 | copy number loss | 11-0002-003 | SNP array | Genotyping | 21 |
| nssv15651063 | copy number loss | 2-1415-001 | SNP array | Genotyping | 22 |
| nssv15654950 | copy number loss | 2-1632-001 | SNP array | Genotyping | 23 |
| nssv15660097 | copy number loss | 3-0640-000 | SNP array | Genotyping | 26 |
| nssv15665723 | copy number loss | 7-0086-003 | SNP array | Genotyping | 16 |
| nssv15667232 | copy number loss | 7-0152-003 | SNP array | Genotyping | 22 |
| nssv15671367 | copy number gain | 7-0280-008 | SNP array | Genotyping | 21 |
| nssv15672784 | copy number loss | 9-0002-001 | SNP array | Genotyping | 23 |
| nssv15678456 | copy number gain | 241461 | SNP array | Genotyping | 18 |
| nssv15691518 | copy number loss | OCD52-S_0625-8219-1 | SNP array | Genotyping | 20 |
| nssv15695576 | copy number loss | 210568 | SNP array | Genotyping | 20 |
| nssv15695985 | copy number loss | 211989 | SNP array | Genotyping | 21 |
| nssv15698968 | copy number loss | 187369 | SNP array | Genotyping | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615689 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15631786 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15634247 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15651063 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15654950 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15660097 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15665723 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15667232 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15671367 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15672784 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15678456 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15691518 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15695576 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15695985 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15698968 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 801_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,801 |
| nssv15615689 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15631786 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15634247 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15651063 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15654950 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15660097 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15665723 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15667232 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15671367 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15672784 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15678456 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15691518 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15695576 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15695985 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 | ||
| nssv15698968 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804308 01_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,801 |