nsv3913143
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,451,210
- Description:GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11210 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 11211 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3057 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913143 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 57,456,076 | 61,907,285 |
| nsv3913143 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 57,748,274 | 62,199,484 |
| nsv3913143 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 55,535,566 | 59,986,776 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132072 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050884.5, VCV000057220.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132072 | Submitted genomic | NC_000015.10:g.(?_ 57456076)_(6190728 5_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 57,456,076 | 61,907,285 |
| nssv15132072 | Submitted genomic | NC_000015.9:g.(?_5 7748274)_(62199484 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 57,748,274 | 62,199,484 |
| nssv15132072 | Submitted genomic | NC_000015.8:g.(?_5 5535566)_(59986776 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 55,535,566 | 59,986,776 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132072 | GRCh37: NC_000015.9:g.(?_57748274)_(62199484_?)del, GRCh38: NC_000015.10:g.(?_57456076)_(61907285_?)del, NCBI36: NC_000015.8:g.(?_55535566)_(59986776_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050884.5, VCV000057220.1 | 1 |