nsv4457747
- 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:272,449
- Description:GRCh37/hg19 21q22.13(chr21:38131532-38403979)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: 827 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 827 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4457747 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 36,759,231 | 37,031,679 |
nsv4457747 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 38,131,532 | 38,403,979 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774428 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000845897.2, VCV000685189.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15774428 | Remapped | Perfect | NC_000021.9:g.(?_3 6759231)_(37031679 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,759,231 | 37,031,679 |
nssv15774428 | Submitted genomic | NC_000021.8:g.(?_3 8131532)_(38403979 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 38,131,532 | 38,403,979 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15774428 | GRCh37: NC_000021.8:g.(?_38131532)_(38403979_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000845897.2, VCV000685189.2 | 3 |