nsv4455820
- 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:307,904
- Description:GRCh37/hg19 6p22.2(chr6:25996066-26303969)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: 848 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 848 SVs from 78 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4455820 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 25,995,838 | 26,303,741 |
nsv4455820 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 25,996,066 | 26,303,969 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775521 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847447.2, VCV000686739.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775521 | Remapped | Perfect | NC_000006.12:g.(?_ 25995838)_(2630374 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 25,995,838 | 26,303,741 |
nssv15775521 | Submitted genomic | NC_000006.11:g.(?_ 25996066)_(2630396 9_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 25,996,066 | 26,303,969 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775521 | GRCh37: NC_000006.11:g.(?_25996066)_(26303969_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000847447.2, VCV000686739.2 | 3 |