nsv6637616
- 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:299,610
- Description:GRCh37/hg19 9q21.33-22.1(chr9:90266171-90565780)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: 1096 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1096 SVs from 84 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6637616 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 87,651,256 | 87,950,865 |
nsv6637616 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 90,266,171 | 90,565,780 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18330465 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474725.1, VCV001808880.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18330465 | Remapped | Perfect | NC_000009.12:g.(?_ 87651256)_(8795086 5_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 87,651,256 | 87,950,865 |
nssv18330465 | Submitted genomic | NC_000009.11:g.(?_ 90266171)_(9056578 0_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 90,266,171 | 90,565,780 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18330465 | GRCh37: NC_000009.11:g.(?_90266171)_(90565780_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002474725.1, VCV001808880.1 | 3 |