nsv3920858
- 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:12,075,412
- Description:GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)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: 48803 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 48846 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 11395 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920858 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 147,250,465 | 159,325,876 |
| nsv3920858 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 146,947,557 | 159,118,566 |
| nsv3920858 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 146,578,490 | 158,811,327 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146339 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051108.5, VCV000057408.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146339 | Submitted genomic | NC_000007.14:g.(?_ 147250465)_(159325 876_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 147,250,465 | 159,325,876 |
| nssv15146339 | Submitted genomic | NC_000007.13:g.(?_ 146947557)_(159118 566_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 146,947,557 | 159,118,566 |
| nssv15146339 | Submitted genomic | NC_000007.12:g.(?_ 146578490)_(158811 327_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 146,578,490 | 158,811,327 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146339 | GRCh37: NC_000007.13:g.(?_146947557)_(159118566_?)del, GRCh38: NC_000007.14:g.(?_147250465)_(159325876_?)del, NCBI36: NC_000007.12:g.(?_146578490)_(158811327_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051108.5, VCV000057408.1 | 1 |