nsv4456972
- 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:762,316
- Description:GRCh37/hg19 4q22.3(chr4:95732136-96494451)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: 2120 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2120 SVs from 82 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4456972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 94,810,985 | 95,573,300 |
nsv4456972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 95,732,136 | 96,494,451 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774672 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846224.2, VCV000685516.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15774672 | Remapped | Perfect | NC_000004.12:g.(?_ 94810985)_(9557330 0_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 94,810,985 | 95,573,300 |
nssv15774672 | Submitted genomic | NC_000004.11:g.(?_ 95732136)_(9649445 1_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 95,732,136 | 96,494,451 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15774672 | GRCh37: NC_000004.11:g.(?_95732136)_(96494451_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846224.2, VCV000685516.2 | 3 |