nsv3904336
- 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:165,220
- Description:GRCh37/hg19 9q21.32(chr9:86234596-86399815)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: 464 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 51 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3904336 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 83,619,681 | 83,784,900 |
nsv3904336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 86,234,596 | 86,399,815 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15169405 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000748497.2, VCV000611861.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15169405 | Remapped | Perfect | NC_000009.12:g.(?_ 83619681)_(8378490 0_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 83,619,681 | 83,784,900 |
nssv15169405 | Submitted genomic | NC_000009.11:g.(?_ 86234596)_(8639981 5_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 86,234,596 | 86,399,815 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15169405 | GRCh37: NC_000009.11:g.(?_86234596)_(86399815_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000748497.2, VCV000611861.2 | 3 |