nsv3915436
- 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:21,548,103
- Description:GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)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: 62526 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 62529 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 16709 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915436 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 5,682,209 | 27,230,311 |
| nsv3915436 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 5,721,840 | 27,269,930 |
| nsv3915436 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 5,688,366 | 27,236,455 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161541 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136649.5, VCV000147466.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161541 | Submitted genomic | NC_000007.14:g.(?_ 5682209)_(27230311 _?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 5,682,209 | 27,230,311 |
| nssv15161541 | Submitted genomic | NC_000007.13:g.(?_ 5721840)_(27269930 _?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,721,840 | 27,269,930 |
| nssv15161541 | Submitted genomic | NC_000007.12:g.(?_ 5688366)_(27236455 _?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 5,688,366 | 27,236,455 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161541 | GRCh37: NC_000007.13:g.(?_5721840)_(27269930_?)dup, GRCh38: NC_000007.14:g.(?_5682209)_(27230311_?)dup, NCBI36: NC_000007.12:g.(?_5688366)_(27236455_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136649.5, VCV000147466.2 | 3 |