nsv3920604
- 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:125,068
- Description:GRCh38/hg38 7q22.1(chr7:101130561-101255628)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: 607 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 607 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920604 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 101,130,561 | 101,255,628 |
| nsv3920604 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,773,842 | 100,898,909 |
| nsv3920604 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 100,560,562 | 100,685,629 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136248 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136835.4, VCV000147676.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136248 | Submitted genomic | NC_000007.14:g.(?_ 101130561)_(101255 628_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 101,130,561 | 101,255,628 |
| nssv15136248 | Submitted genomic | NC_000007.13:g.(?_ 100773842)_(100898 909_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,773,842 | 100,898,909 |
| nssv15136248 | Submitted genomic | NC_000007.12:g.(?_ 100560562)_(100685 629_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,560,562 | 100,685,629 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136248 | GRCh37: NC_000007.13:g.(?_100773842)_(100898909_?)dup, GRCh38: NC_000007.14:g.(?_101130561)_(101255628_?)dup, NCBI36: NC_000007.12:g.(?_100560562)_(100685629_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000136835.4, VCV000147676.2 | 3 |