nsv3890331
- 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:15,652,172
- Description:GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)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: 38682 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 38596 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 10948 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3890331 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 104,325,484 | 119,977,655 |
| nsv3890331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 104,868,106 | 120,471,049 |
| nsv3890331 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 104,669,629 | 120,321,801 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148986 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142953.4, VCV000154886.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148986 | Submitted genomic | NC_000001.11:g.(?_ 104325484)_(119977 655_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 104,325,484 | 119,977,655 |
| nssv15148986 | Submitted genomic | NC_000001.10:g.(?_ 104868106)_(120471 049_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,868,106 | 120,471,049 |
| nssv15148986 | Submitted genomic | NC_000001.9:g.(?_1 04669629)_(1203218 01_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 104,669,629 | 120,321,801 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148986 | GRCh37: NC_000001.10:g.(?_104868106)_(120471049_?)dup, GRCh38: NC_000001.11:g.(?_104325484)_(119977655_?)dup, NCBI36: NC_000001.9:g.(?_104669629)_(120321801_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142953.4, VCV000154886.2 | 3 |