nsv3917263
- 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:29,049,165
- Description:GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 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: 68361 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 66709 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 17773 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917263 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 33,328,312 | 62,377,476 |
| nsv3917263 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 33,367,924 | 61,831,899 |
| nsv3917263 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 33,334,449 | 61,469,334 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146465 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053532.7, VCV000059680.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146465 | Submitted genomic | NC_000007.14:g.(?_ 33328312)_(6237747 6_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 33,328,312 | 62,377,476 |
| nssv15146465 | Submitted genomic | NC_000007.13:g.(?_ 33367924)_(6183189 9_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 33,367,924 | 61,831,899 |
| nssv15146465 | Submitted genomic | NC_000007.12:g.(?_ 33334449)_(6146933 4_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 33,334,449 | 61,469,334 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146465 | GRCh37: NC_000007.13:g.(?_33367924)_(61831899_?)dup, GRCh38: NC_000007.14:g.(?_33328312)_(62377476_?)dup, NCBI36: NC_000007.12:g.(?_33334449)_(61469334_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053532.7, VCV000059680.1 | 3 |