nsv3972110
- 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:203,172
- Description:GRCh37/hg19 6p25.2(chr6:3768839-3972010)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: 642 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 642 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3972110 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 3,768,605 | 3,971,776 |
| nsv3972110 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 3,768,839 | 3,972,010 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15223209 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV000762754.3, VCV000624523.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15223209 | Remapped | Perfect | NC_000006.12:g.(?_ 3768605)_(3971776_ ?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,768,605 | 3,971,776 |
| nssv15223209 | Submitted genomic | NC_000006.11:g.(?_ 3768839)_(3972010_ ?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 3,768,839 | 3,972,010 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15223209 | GRCh37: NC_000006.11:g.(?_3768839)_(3972010_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV000762754.3, VCV000624523.3 | 3 |