nsv3919772
- 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:17,375,006
- Description:GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)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: 65897 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 61531 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 17679 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919772 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 141,960,861 | 159,335,866 |
| nsv3919772 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 142,528,609 | 159,128,556 |
| nsv3919772 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 141,307,130 | 158,821,317 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148115 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137256.5, VCV000148181.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148115 | Submitted genomic | NC_000007.14:g.(?_ 141960861)_(159335 866_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 141,960,861 | 159,335,866 |
| nssv15148115 | Submitted genomic | NC_000007.13:g.(?_ 142528609)_(159128 556_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,528,609 | 159,128,556 |
| nssv15148115 | Submitted genomic | NC_000007.12:g.(?_ 141307130)_(158821 317_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 141,307,130 | 158,821,317 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148115 | GRCh37: NC_000007.13:g.(?_142528609)_(159128556_?)del, GRCh38: NC_000007.14:g.(?_141960861)_(159335866_?)del, NCBI36: NC_000007.12:g.(?_141307130)_(158821317_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000137256.5, VCV000148181.2 | 1 |