nsv3894662
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:24,295
- Description:GRCh37/hg19 6q23.3(chr6:135711485-135735779)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: 136 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 26 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3894662 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 135,390,347 | 135,414,641 |
nsv3894662 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 135,711,485 | 135,735,779 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774884 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846529.2, VCV000685821.2 | 1 |
nssv15776630 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849703.2, VCV000689012.2 | 1 |
nssv15776636 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849713.2, VCV000689022.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15774884 | Remapped | Perfect | NC_000006.12:g.(?_ 135390347)_(135414 641_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 135,390,347 | 135,414,641 |
nssv15776630 | Remapped | Perfect | NC_000006.12:g.(?_ 135390347)_(135414 641_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 135,390,347 | 135,414,641 |
nssv15776636 | Remapped | Perfect | NC_000006.12:g.(?_ 135390347)_(135414 641_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 135,390,347 | 135,414,641 |
nssv15774884 | Submitted genomic | NC_000006.11:g.(?_ 135711485)_(135735 779_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 135,711,485 | 135,735,779 | ||
nssv15776630 | Submitted genomic | NC_000006.11:g.(?_ 135711485)_(135735 779_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 135,711,485 | 135,735,779 | ||
nssv15776636 | Submitted genomic | NC_000006.11:g.(?_ 135711485)_(135735 779_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 135,711,485 | 135,735,779 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774884 | GRCh37: NC_000006.11:g.(?_135711485)_(135735779_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846529.2, VCV000685821.2 | 1 |
nssv15776630 | GRCh37: NC_000006.11:g.(?_135711485)_(135735779_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000849703.2, VCV000689012.2 | 1 |
nssv15776636 | GRCh37: NC_000006.11:g.(?_135711485)_(135735779_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000849713.2, VCV000689022.2 | 1 |