nsv3918473
- 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:74,163
- Description:GRCh38/hg38 20q11.21(chr20:32395883-32470045)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: 224 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918473 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 32,395,883 | 32,470,045 |
| nsv3918473 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 30,983,686 | 31,057,848 |
| nsv3918473 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 30,447,347 | 30,521,509 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139310 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143551.4, VCV000155484.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139310 | Submitted genomic | NC_000020.11:g.(?_ 32395883)_(3247004 5_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 32,395,883 | 32,470,045 |
| nssv15139310 | Submitted genomic | NC_000020.10:g.(?_ 30983686)_(3105784 8_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 30,983,686 | 31,057,848 |
| nssv15139310 | Submitted genomic | NC_000020.9:g.(?_3 0447347)_(30521509 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 30,447,347 | 30,521,509 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139310 | GRCh37: NC_000020.10:g.(?_30983686)_(31057848_?)dup, GRCh38: NC_000020.11:g.(?_32395883)_(32470045_?)dup, NCBI36: NC_000020.9:g.(?_30447347)_(30521509_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143551.4, VCV000155484.2 | 3 |