nsv3894794
- 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:7,632
- Description:GRCh37/hg19 7q34(chr7:142829167-142836798)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 236 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894794 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,132,074 | 143,139,705 |
| nsv3894794 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 142,829,167 | 142,836,798 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142666 | copy number loss | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000447700.3, VCV000393831.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142666 | Remapped | Perfect | NC_000007.14:g.(?_ 143132074)_(143139 705_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,132,074 | 143,139,705 |
| nssv15142666 | Submitted genomic | NC_000007.13:g.(?_ 142829167)_(142836 798_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,829,167 | 142,836,798 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142666 | GRCh37: NC_000007.13:g.(?_142829167)_(142836798_?)del | copy number loss | not provided | See cases | Benign/Likely benign | ClinVar | RCV000447700.3, VCV000393831.3 | 1 |