nsv3915521
- 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:3,127,598
- Description:GRCh38/hg38 14q23.1(chr14:58146022-61273619)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: 7718 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 7718 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1978 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915521 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 58,146,022 | 61,273,619 |
| nsv3915521 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 58,612,740 | 61,740,337 |
| nsv3915521 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 57,682,493 | 60,810,090 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146257 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051522.5, VCV000057782.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146257 | Submitted genomic | NC_000014.9:g.(?_5 8146022)_(61273619 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 58,146,022 | 61,273,619 |
| nssv15146257 | Submitted genomic | NC_000014.8:g.(?_5 8612740)_(61740337 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 58,612,740 | 61,740,337 |
| nssv15146257 | Submitted genomic | NC_000014.7:g.(?_5 7682493)_(60810090 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 57,682,493 | 60,810,090 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146257 | GRCh37: NC_000014.8:g.(?_58612740)_(61740337_?)del, GRCh38: NC_000014.9:g.(?_58146022)_(61273619_?)del, NCBI36: NC_000014.7:g.(?_57682493)_(60810090_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051522.5, VCV000057782.1 | 1 |