nsv3913671
- 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:25,176,036
- Description:GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 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: 86164 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 86206 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 21749 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913671 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 45,130 | 25,221,165 |
| nsv3913671 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 45,130 | 25,260,784 |
| nsv3913671 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 140,213 | 25,227,309 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161332 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137824.6, VCV000148758.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161332 | Submitted genomic | NC_000007.14:g.(?_ 45130)_(25221165_? )dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 45,130 | 25,221,165 |
| nssv15161332 | Submitted genomic | NC_000007.13:g.(?_ 45130)_(25260784_? )dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 45,130 | 25,260,784 |
| nssv15161332 | Submitted genomic | NC_000007.12:g.(?_ 140213)_(25227309_ ?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 140,213 | 25,227,309 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161332 | GRCh37: NC_000007.13:g.(?_45130)_(25260784_?)dup, GRCh38: NC_000007.14:g.(?_45130)_(25221165_?)dup, NCBI36: NC_000007.12:g.(?_140213)_(25227309_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137824.6, VCV000148758.2 | 3 |