nsv3923563
- 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:1,680,629
- Description:
GRCh38/hg38 20p13(chr20:89939-1770567)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: 6677 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 6685 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 2055 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923563 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 89,939 | 1,770,567 |
| nsv3923563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 70,580 | 1,751,213 |
| nsv3923563 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 18,580 | 1,699,213 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134313 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052736.4, VCV000058943.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134313 | Submitted genomic | NC_000020.11:g.(?_ 89939)_(1770567_?) del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 89,939 | 1,770,567 |
| nssv15134313 | Submitted genomic | NC_000020.10:g.(?_ 70580)_(1751213_?) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 70,580 | 1,751,213 |
| nssv15134313 | Submitted genomic | NC_000020.9:g.(?_1 8580)_(1699213_?)d el | NCBI36 (hg18) | NC_000020.9 | Chr20 | 18,580 | 1,699,213 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134313 | GRCh37: NC_000020.10:g.(?_70580)_(1751213_?)del, GRCh38: NC_000020.11:g.(?_89939)_(1770567_?)del, NCBI36: NC_000020.9:g.(?_18580)_(1699213_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052736.4, VCV000058943.1 | 1 |