nsv3903595
- 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:971,681
- Description:GRCh38/hg38 1p34.1(chr1:43896056-44867736)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: 2552 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 2552 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 553 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3903595 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 43,896,056 | 44,867,736 |
| nsv3903595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 44,361,728 | 45,333,408 |
| nsv3903595 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 44,134,315 | 45,105,995 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148214 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142581.6, VCV000154514.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148214 | Submitted genomic | NC_000001.11:g.(?_ 43896056)_(4486773 6_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 43,896,056 | 44,867,736 |
| nssv15148214 | Submitted genomic | NC_000001.10:g.(?_ 44361728)_(4533340 8_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 44,361,728 | 45,333,408 |
| nssv15148214 | Submitted genomic | NC_000001.9:g.(?_4 4134315)_(45105995 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 44,134,315 | 45,105,995 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148214 | GRCh37: NC_000001.10:g.(?_44361728)_(45333408_?)dup, GRCh38: NC_000001.11:g.(?_43896056)_(44867736_?)dup, NCBI36: NC_000001.9:g.(?_44134315)_(45105995_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000142581.6, VCV000154514.2 | 3 |