nsv4375821
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,937
- 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: 444 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4375821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nsv4375821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15618505 | copy number loss | 1-0901-003 | SNP array | Genotyping | 21 |
| nssv15618529 | copy number loss | 1-0901-004 | SNP array | Genotyping | 19 |
| nssv15622464 | copy number loss | 1-1060-003 | SNP array | Genotyping | 26 |
| nssv15637581 | copy number loss | 14-0130-001 | SNP array | Genotyping | 26 |
| nssv15638352 | copy number loss | 14-0130-003 | SNP array | Genotyping | 24 |
| nssv15648301 | copy number loss | 2-1276-002 | SNP array | Genotyping | 14 |
| nssv15655899 | copy number loss | 2-1746-003 | SNP array | Genotyping | 17 |
| nssv15681860 | copy number loss | OCD1118-896763 | SNP array | Genotyping | 25 |
| nssv15690498 | copy number loss | OCD145-HM-1349(188527) | SNP array | Genotyping | 20 |
| nssv15690518 | copy number loss | OCD145-JM-1347 | SNP array | Genotyping | 18 |
| nssv15696390 | copy number loss | 158452 | SNP array | Genotyping | 35 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15618505 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15618529 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15622464 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15637581 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15638352 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15648301 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15655899 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15681860 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15690498 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15690518 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15696390 | Remapped | Perfect | NC_000013.11:g.(?_ 89144358)_(8918529 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,144,358 | 89,185,294 |
| nssv15618505 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15618529 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15622464 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15637581 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15638352 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15648301 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15655899 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15681860 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15690498 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15690518 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 | ||
| nssv15696390 | Submitted genomic | NC_000013.10:g.(?_ 89796612)_(8983754 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 89,796,612 | 89,837,548 |