nsv3892457
- 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:604,972
- Description:GRCh38/hg38 1q22(chr1:155182457-155787428)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: 1890 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1820 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892457 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 155,182,457 | 155,787,428 |
| nsv3892457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,154,933 | 155,757,219 |
| nsv3892457 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 153,421,557 | 154,023,843 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133390 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051164.5, VCV000057458.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133390 | Submitted genomic | NC_000001.11:g.(?_ 155182457)_(155787 428_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 155,182,457 | 155,787,428 |
| nssv15133390 | Submitted genomic | NC_000001.10:g.(?_ 155154933)_(155757 219_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,154,933 | 155,757,219 |
| nssv15133390 | Submitted genomic | NC_000001.9:g.(?_1 53421557)_(1540238 43_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 153,421,557 | 154,023,843 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133390 | GRCh37: NC_000001.10:g.(?_155154933)_(155757219_?)dup, GRCh38: NC_000001.11:g.(?_155182457)_(155787428_?)dup, NCBI36: NC_000001.9:g.(?_153421557)_(154023843_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000051164.5, VCV000057458.1 | 3 |