nsv3917508
- 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:12,696,347
- Description:GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)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: 40195 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 40202 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 10109 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 |
|---|---|---|---|---|---|---|---|
| nsv3917508 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 62,736,364 | 75,432,710 |
| nsv3917508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 62,196,742 | 75,061,986 |
| nsv3917508 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,834,177 | 74,899,922 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148211 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142528.7, VCV000154461.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148211 | Submitted genomic | NC_000007.14:g.(?_ 62736364)_(7543271 0_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 62,736,364 | 75,432,710 |
| nssv15148211 | Submitted genomic | NC_000007.13:g.(?_ 62196742)_(7506198 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 62,196,742 | 75,061,986 |
| nssv15148211 | Submitted genomic | NC_000007.12:g.(?_ 61834177)_(7489992 2_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,834,177 | 74,899,922 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148211 | GRCh37: NC_000007.13:g.(?_62196742)_(75061986_?)del, GRCh38: NC_000007.14:g.(?_62736364)_(75432710_?)del, NCBI36: NC_000007.12:g.(?_61834177)_(74899922_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142528.7, VCV000154461.2 | 1 |