nsv3924353
- 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:2,950,778
- Description:GRCh38/hg38 20q13.33(chr20:61326549-64277326)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: 16523 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 16490 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 3939 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924353 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 61,326,549 | 64,277,326 |
| nsv3924353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 59,901,605 | 62,908,679 |
| nsv3924353 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 59,335,000 | 62,379,123 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136949 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139100.6, VCV000150212.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136949 | Submitted genomic | NC_000020.11:g.(?_ 61326549)_(6427732 6_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 61,326,549 | 64,277,326 |
| nssv15136949 | Submitted genomic | NC_000020.10:g.(?_ 59901605)_(6290867 9_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 59,901,605 | 62,908,679 |
| nssv15136949 | Submitted genomic | NC_000020.9:g.(?_5 9335000)_(62379123 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 59,335,000 | 62,379,123 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136949 | GRCh37: NC_000020.10:g.(?_59901605)_(62908679_?)dup, GRCh38: NC_000020.11:g.(?_61326549)_(64277326_?)dup, NCBI36: NC_000020.9:g.(?_59335000)_(62379123_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139100.6, VCV000150212.2 | 3 |