nsv3922685
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:25,165,505
- Description:GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 62337 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 62269 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 15318 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922685 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 88,522,292 | 113,687,796 |
| nsv3922685 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 91,137,207 | 116,450,076 |
| nsv3922685 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 90,327,027 | 115,489,897 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146551 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053752.7, VCV000059881.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146551 | Submitted genomic | NC_000009.12:g.(?_ 88522292)_(1136877 96_?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 88,522,292 | 113,687,796 |
| nssv15146551 | Submitted genomic | NC_000009.11:g.(?_ 91137207)_(1164500 76_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 91,137,207 | 116,450,076 |
| nssv15146551 | Submitted genomic | NC_000009.10:g.(?_ 90327027)_(1154898 97_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 90,327,027 | 115,489,897 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146551 | GRCh37: NC_000009.11:g.(?_91137207)_(116450076_?)dup, GRCh38: NC_000009.12:g.(?_88522292)_(113687796_?)dup, NCBI36: NC_000009.10:g.(?_90327027)_(115489897_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053752.7, VCV000059881.1 | 3 |