nsv3898327
- 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:20,816,593
- Description:GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)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: 49634 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 49535 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 13757 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3898327 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 83,457,325 | 104,273,917 |
| nsv3898327 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 83,923,008 | 104,816,539 |
| nsv3898327 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 83,695,596 | 104,618,062 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148057 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135654.5, VCV000146350.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148057 | Submitted genomic | NC_000001.11:g.(?_ 83457325)_(1042739 17_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 83,457,325 | 104,273,917 |
| nssv15148057 | Submitted genomic | NC_000001.10:g.(?_ 83923008)_(1048165 39_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 83,923,008 | 104,816,539 |
| nssv15148057 | Submitted genomic | NC_000001.9:g.(?_8 3695596)_(10461806 2_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 83,695,596 | 104,618,062 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148057 | GRCh37: NC_000001.10:g.(?_83923008)_(104816539_?)dup, GRCh38: NC_000001.11:g.(?_83457325)_(104273917_?)dup, NCBI36: NC_000001.9:g.(?_83695596)_(104618062_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135654.5, VCV000146350.2 | 3 |