nsv3922815
- 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:61,503,911
- Description:GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)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: 178331 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 177969 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 45996 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 |
|---|---|---|---|---|---|---|---|
| nsv3922815 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 97,419,852 | 158,923,762 |
| nsv3922815 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 97,049,164 | 158,716,453 |
| nsv3922815 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 96,887,100 | 158,409,214 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147343 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136717.5, VCV000147547.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147343 | Submitted genomic | NC_000007.14:g.(?_ 97419852)_(1589237 62_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 97,419,852 | 158,923,762 |
| nssv15147343 | Submitted genomic | NC_000007.13:g.(?_ 97049164)_(1587164 53_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 97,049,164 | 158,716,453 |
| nssv15147343 | Submitted genomic | NC_000007.12:g.(?_ 96887100)_(1584092 14_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 96,887,100 | 158,409,214 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147343 | GRCh37: NC_000007.13:g.(?_97049164)_(158716453_?)dup, GRCh38: NC_000007.14:g.(?_97419852)_(158923762_?)dup, NCBI36: NC_000007.12:g.(?_96887100)_(158409214_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136717.5, VCV000147547.2 | 3 |