nsv3916726
- 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:17,463,885
- Description:GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)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: 43314 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 43282 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 11351 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916726 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 117,326,805 | 134,790,689 |
| nsv3916726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 116,966,859 | 134,475,440 |
| nsv3916726 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 116,754,095 | 134,125,980 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147406 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138226.5, VCV000149172.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147406 | Submitted genomic | NC_000007.14:g.(?_ 117326805)_(134790 689_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 117,326,805 | 134,790,689 |
| nssv15147406 | Submitted genomic | NC_000007.13:g.(?_ 116966859)_(134475 440_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 116,966,859 | 134,475,440 |
| nssv15147406 | Submitted genomic | NC_000007.12:g.(?_ 116754095)_(134125 980_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 116,754,095 | 134,125,980 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147406 | GRCh37: NC_000007.13:g.(?_116966859)_(134475440_?)del, GRCh38: NC_000007.14:g.(?_117326805)_(134790689_?)del, NCBI36: NC_000007.12:g.(?_116754095)_(134125980_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138226.5, VCV000149172.2 | 1 |