nsv3922590
- 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:1,696,117
- Description:GRCh38/hg38 20q13.33(chr20:62545370-64241486)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: 10434 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 10416 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 2631 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922590 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 62,545,370 | 64,241,486 |
| nsv3922590 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,142,577 | 62,872,839 |
| nsv3922590 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 60,553,022 | 62,343,283 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134318 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052769.4, VCV000058975.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134318 | Submitted genomic | NC_000020.11:g.(?_ 62545370)_(6424148 6_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 62,545,370 | 64,241,486 |
| nssv15134318 | Submitted genomic | NC_000020.10:g.(?_ 61142577)_(6287283 9_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,142,577 | 62,872,839 |
| nssv15134318 | Submitted genomic | NC_000020.9:g.(?_6 0553022)_(62343283 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 60,553,022 | 62,343,283 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134318 | GRCh37: NC_000020.10:g.(?_61142577)_(62872839_?)del, GRCh38: NC_000020.11:g.(?_62545370)_(64241486_?)del, NCBI36: NC_000020.9:g.(?_60553022)_(62343283_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052769.4, VCV000058975.1 | 1 |