nsv4685723
- 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:1,976,865
- Description:GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)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: 6540 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 6540 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685723 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 148,200,613 | 150,177,477 |
| nsv4685723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 147,897,705 | 149,874,566 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16216665 | copy number loss | Multiple | Multiple | not provided | not provided | ClinVar | RCV001249216.1, VCV000972930.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216665 | Remapped | Perfect | NC_000007.14:g.(?_ 148200613)_(150177 477_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 148,200,613 | 150,177,477 |
| nssv16216665 | Submitted genomic | NC_000007.13:g.(?_ 147897705)_(149874 566_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 147,897,705 | 149,874,566 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16216665 | GRCh37: NC_000007.13:g.(?_147897705)_(149874566_?)del | copy number loss | de novo | not provided | not provided | ClinVar | RCV001249216.1, VCV000972930.1 | 3 |