nsv3915005
- 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:19,489,618
- Description:GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)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: 66007 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 65547 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 15693 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915005 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 44,787,704 | 64,277,321 |
| nsv3915005 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 43,416,345 | 62,908,674 |
| nsv3915005 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 42,849,759 | 62,379,118 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145784 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053035.9, VCV000059218.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145784 | Submitted genomic | NC_000020.11:g.(?_ 44787704)_(6427732 1_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 44,787,704 | 64,277,321 |
| nssv15145784 | Submitted genomic | NC_000020.10:g.(?_ 43416345)_(6290867 4_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 43,416,345 | 62,908,674 |
| nssv15145784 | Submitted genomic | NC_000020.9:g.(?_4 2849759)_(62379118 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 42,849,759 | 62,379,118 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145784 | GRCh37: NC_000020.10:g.(?_43416345)_(62908674_?)dup, GRCh38: NC_000020.11:g.(?_44787704)_(64277321_?)dup, NCBI36: NC_000020.9:g.(?_42849759)_(62379118_?)dup | copy number gain | paternal | See cases | Pathogenic | ClinVar | RCV000053035.9, VCV000059218.1 | 3 |