nsv4457744
- 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:142,162
- Description:GRCh37/hg19 20p13(chr20:3654723-3796884)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: 684 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 684 SVs from 69 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4457744 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 3,674,076 | 3,816,237 |
nsv4457744 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 3,654,723 | 3,796,884 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772179 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846902.2, VCV000686194.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15772179 | Remapped | Perfect | NC_000020.11:g.(?_ 3674076)_(3816237_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 3,674,076 | 3,816,237 |
nssv15772179 | Submitted genomic | NC_000020.10:g.(?_ 3654723)_(3796884_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 3,654,723 | 3,796,884 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15772179 | GRCh37: NC_000020.10:g.(?_3654723)_(3796884_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846902.2, VCV000686194.2 | 3 |