nsv4382595
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,818
- 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: 1327 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1344 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4382595 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nsv4382595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619994 | copy number loss | 1-0950-003 | SNP array | Genotyping | 27 |
| nssv15620080 | copy number loss | 1-0917-003 | SNP array | Genotyping | 21 |
| nssv15625850 | copy number loss | 1-0389-005 | SNP array | Genotyping | 16 |
| nssv15626927 | copy number loss | 1-0458-001 | SNP array | Genotyping | 20 |
| nssv15629501 | copy number loss | 1-0565-002 | SNP array | Genotyping | 23 |
| nssv15632365 | copy number loss | 10-0004-001 | SNP array | Genotyping | 13 |
| nssv15633469 | copy number loss | 10-1129-001 | SNP array | Genotyping | 19 |
| nssv15646260 | copy number loss | 2-0018-002 | SNP array | Genotyping | 20 |
| nssv15646280 | copy number loss | 2-0018-003 | SNP array | Genotyping | 23 |
| nssv15646700 | copy number loss | 2-0305-003 | SNP array | Genotyping | 17 |
| nssv15648183 | copy number loss | 2-1235-002 | SNP array | Genotyping | 23 |
| nssv15649105 | copy number loss | 2-1186-003 | SNP array | Genotyping | 19 |
| nssv15657579 | copy number loss | 4-0029-001 | SNP array | Genotyping | 18 |
| nssv15675236 | copy number loss | 245512S | SNP array | Genotyping | 23 |
| nssv15678574 | copy number loss | 218119 | SNP array | Genotyping | 29 |
| nssv15700238 | copy number loss | 196898 | SNP array | Genotyping | 16 |
| nssv15700853 | copy number loss | 217142 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619994 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15620080 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15625850 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15626927 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15629501 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15632365 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15633469 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15646260 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15646280 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15646700 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15648183 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15649105 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15657579 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15675236 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15678574 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15700238 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15700853 | Remapped | Perfect | NC_000001.11:g.(?_ 1690347)_(1741164_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,690,347 | 1,741,164 |
| nssv15619994 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15620080 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15625850 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15626927 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15629501 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15632365 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15633469 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15646260 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15646280 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15646700 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15648183 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15649105 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15657579 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15675236 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15678574 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15700238 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 | ||
| nssv15700853 | Submitted genomic | NC_000001.10:g.(?_ 1621786)_(1672603_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,621,786 | 1,672,603 |