nsv4457011
- 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:465,651
- Description:GRCh37/hg19 7q32.1(chr7:127999644-128465294)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: 1645 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1645 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457011 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 128,359,590 | 128,825,240 |
| nsv4457011 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 127,999,644 | 128,465,294 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772138 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846728.2, VCV000686020.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772138 | Remapped | Perfect | NC_000007.14:g.(?_ 128359590)_(128825 240_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 128,359,590 | 128,825,240 |
| nssv15772138 | Submitted genomic | NC_000007.13:g.(?_ 127999644)_(128465 294_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 127,999,644 | 128,465,294 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772138 | GRCh37: NC_000007.13:g.(?_127999644)_(128465294_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846728.2, VCV000686020.2 | 3 |