nsv4729679
- 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:842,808
- Description:GRCh37/hg19 7p22.1(chr7:5919587-6762394)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: 3747 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 3747 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729679 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 5,879,956 | 6,722,763 |
| nsv4729679 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 5,919,587 | 6,762,394 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254344 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259436.1, VCV000980260.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254344 | Remapped | Perfect | NC_000007.14:g.(?_ 5879956)_(6722763_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,879,956 | 6,722,763 |
| nssv16254344 | Submitted genomic | NC_000007.13:g.(?_ 5919587)_(6762394_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,919,587 | 6,762,394 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254344 | GRCh37: NC_000007.13:g.(?_5919587)_(6762394_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259436.1, VCV000980260.1 | 3 |