nsv3918948
- 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:6,299,697
- Description:GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)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: 14983 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 14986 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4067 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918948 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 39,063,400 | 45,363,096 |
| nsv3918948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 39,103,000 | 45,402,695 |
| nsv3918948 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 39,069,525 | 45,369,220 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147366 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137305.4, VCV000148230.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147366 | Submitted genomic | NC_000007.14:g.(?_ 39063400)_(4536309 6_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 39,063,400 | 45,363,096 |
| nssv15147366 | Submitted genomic | NC_000007.13:g.(?_ 39103000)_(4540269 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 39,103,000 | 45,402,695 |
| nssv15147366 | Submitted genomic | NC_000007.12:g.(?_ 39069525)_(4536922 0_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 39,069,525 | 45,369,220 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147366 | GRCh37: NC_000007.13:g.(?_39103000)_(45402695_?)del, GRCh38: NC_000007.14:g.(?_39063400)_(45363096_?)del, NCBI36: NC_000007.12:g.(?_39069525)_(45369220_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137305.4, VCV000148230.2 | 1 |