nsv4457450
- 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:1,287,962
- Description:GRCh37/hg19 20p11.21(chr20:24232978-25520939)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: 3392 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3392 SVs from 94 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4457450 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 24,252,342 | 25,540,303 |
nsv4457450 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 24,232,978 | 25,520,939 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775524 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847453.2, VCV000686745.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775524 | Remapped | Perfect | NC_000020.11:g.(?_ 24252342)_(2554030 3_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 24,252,342 | 25,540,303 |
nssv15775524 | Submitted genomic | NC_000020.10:g.(?_ 24232978)_(2552093 9_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 24,232,978 | 25,520,939 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775524 | GRCh37: NC_000020.10:g.(?_24232978)_(25520939_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000847453.2, VCV000686745.2 | 3 |