nsv3915168
- 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:1,947,146
- Description:GRCh38/hg38 7q33-34(chr7:137741740-139688885)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: 5557 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 5558 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1257 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915168 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 137,741,740 | 139,688,885 |
| nsv3915168 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 137,426,486 | 139,373,631 |
| nsv3915168 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 137,077,026 | 139,024,171 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121485 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054174.5, VCV000060298.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121485 | Submitted genomic | NC_000007.14:g.(?_ 137741740)_(139688 885_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 137,741,740 | 139,688,885 |
| nssv15121485 | Submitted genomic | NC_000007.13:g.(?_ 137426486)_(139373 631_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 137,426,486 | 139,373,631 |
| nssv15121485 | Submitted genomic | NC_000007.12:g.(?_ 137077026)_(139024 171_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 137,077,026 | 139,024,171 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121485 | GRCh37: NC_000007.13:g.(?_137426486)_(139373631_?)del, GRCh38: NC_000007.14:g.(?_137741740)_(139688885_?)del, NCBI36: NC_000007.12:g.(?_137077026)_(139024171_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054174.5, VCV000060298.1 | 1 |