nsv3909469
- 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:12,010,733
- Description:GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)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: 45496 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 44736 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3909469 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 158,734,966 | 170,745,698 |
| nsv3909469 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 159,155,998 | 171,054,786 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15166039 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000746132.2, VCV000609496.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15166039 | Remapped | Good | NC_000006.12:g.(?_ 158734966)_(170745 698_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 158,734,966 | 170,745,698 |
| nssv15166039 | Submitted genomic | NC_000006.11:g.(?_ 159155998)_(171054 786_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 159,155,998 | 171,054,786 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15166039 | GRCh37: NC_000006.11:g.(?_159155998)_(171054786_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000746132.2, VCV000609496.2 | 3 |