nsv3891344
- 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:929
- Description:GRCh37/hg19 10q22.2(chr10:75633630-75634558)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: 127 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3891344 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 73,873,872 | 73,874,800 |
| nsv3891344 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 75,633,630 | 75,634,558 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15170868 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000749682.2, VCV000613046.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15170868 | Remapped | Perfect | NC_000010.11:g.(?_ 73873872)_(7387480 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 73,873,872 | 73,874,800 |
| nssv15170868 | Submitted genomic | NC_000010.10:g.(?_ 75633630)_(7563455 8_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 75,633,630 | 75,634,558 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15170868 | GRCh37: NC_000010.10:g.(?_75633630)_(75634558_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000749682.2, VCV000613046.2 | 1 |