nsv3914995
- 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:6,550,576
- Description:GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 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: 21987 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 21993 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 5736 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 |
|---|---|---|---|---|---|---|---|
| nsv3914995 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 11,086,096 | 17,636,671 |
| nsv3914995 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,086,096 | 17,636,669 |
| nsv3914995 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 11,076,096 | 17,626,669 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132329 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051021.6, VCV000057336.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132329 | Submitted genomic | NC_000009.12:g.(?_ 11086096)_(1763667 1_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 11,086,096 | 17,636,671 |
| nssv15132329 | Submitted genomic | NC_000009.11:g.(?_ 11086096)_(1763666 9_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,086,096 | 17,636,669 |
| nssv15132329 | Submitted genomic | NC_000009.10:g.(?_ 11076096)_(1762666 9_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 11,076,096 | 17,626,669 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132329 | GRCh37: NC_000009.11:g.(?_11086096)_(17636669_?)del, GRCh38: NC_000009.12:g.(?_11086096)_(17636671_?)del, NCBI36: NC_000009.10:g.(?_11076096)_(17626669_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051021.6, VCV000057336.1 | 1 |