nsv3919826
- 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:159,228,206
- Description:GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)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: 452599 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 450935 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 116632 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919826 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 54,185 | 159,282,390 |
| nsv3919826 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 54,185 | 159,075,079 |
| nsv3919826 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 149,268 | 158,767,840 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161318 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135401.5, VCV000146075.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161318 | Submitted genomic | NC_000007.14:g.(?_ 54185)_(159282390_ ?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 54,185 | 159,282,390 |
| nssv15161318 | Submitted genomic | NC_000007.13:g.(?_ 54185)_(159075079_ ?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 54,185 | 159,075,079 |
| nssv15161318 | Submitted genomic | NC_000007.12:g.(?_ 149268)_(158767840 _?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 149,268 | 158,767,840 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161318 | GRCh37: NC_000007.13:g.(?_54185)_(159075079_?)del, GRCh38: NC_000007.14:g.(?_54185)_(159282390_?)del, NCBI36: NC_000007.12:g.(?_149268)_(158767840_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135401.5, VCV000146075.2 | 1 |