nsv4455493
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:28,419,223
- Description:GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 94343 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 94131 SVs from 144 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455493 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 130,907,795 | 159,327,017 |
| nsv4455493 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 130,592,554 | 159,119,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776564 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849569.2, VCV000688878.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776564 | Remapped | Good | NC_000007.14:g.(?_ 130907795)_(159327 017_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 130,907,795 | 159,327,017 |
| nssv15776564 | Submitted genomic | NC_000007.13:g.(?_ 130592554)_(159119 707_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 130,592,554 | 159,119,707 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776564 | GRCh37: NC_000007.13:g.(?_130592554)_(159119707_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000849569.2, VCV000688878.2 | 3 |