nsv3908863
- 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:1,156,400
- Description:GRCh38/hg38 1p35.2(chr1:30864842-32021241)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: 3497 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3478 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 728 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908863 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 30,864,842 | 32,021,241 |
| nsv3908863 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 31,337,689 | 32,486,842 |
| nsv3908863 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 31,110,276 | 32,259,429 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148227 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142920.6, VCV000154853.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148227 | Submitted genomic | NC_000001.11:g.(?_ 30864842)_(3202124 1_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 30,864,842 | 32,021,241 |
| nssv15148227 | Submitted genomic | NC_000001.10:g.(?_ 31337689)_(3248684 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 31,337,689 | 32,486,842 |
| nssv15148227 | Submitted genomic | NC_000001.9:g.(?_3 1110276)_(32259429 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 31,110,276 | 32,259,429 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148227 | GRCh37: NC_000001.10:g.(?_31337689)_(32486842_?)dup, GRCh38: NC_000001.11:g.(?_30864842)_(32021241_?)dup, NCBI36: NC_000001.9:g.(?_31110276)_(32259429_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000142920.6, VCV000154853.2 | 3 |