nsv4456579
- 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:124,606
- Description:GRCh37/hg19 7p12.3(chr7:47709853-47834458)x1 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: 519 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 519 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456579 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 47,670,255 | 47,794,860 |
| nsv4456579 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 47,709,853 | 47,834,458 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15771952 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846086.2, VCV000685378.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15771952 | Remapped | Perfect | NC_000007.14:g.(?_ 47670255)_(4779486 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 47,670,255 | 47,794,860 |
| nssv15771952 | Submitted genomic | NC_000007.13:g.(?_ 47709853)_(4783445 8_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 47,709,853 | 47,834,458 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15771952 | GRCh37: NC_000007.13:g.(?_47709853)_(47834458_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846086.2, VCV000685378.2 | 1 |