nsv3902729
- 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:544,487
- Description:GRCh38/hg38 1q21.3(chr1:152951169-153495655)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: 1487 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1496 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 328 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 |
|---|---|---|---|---|---|---|---|
| nsv3902729 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 152,951,169 | 153,495,655 |
| nsv3902729 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 152,923,645 | 153,468,131 |
| nsv3902729 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 151,190,269 | 151,734,755 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135447 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000136561.4, VCV000147363.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135447 | Submitted genomic | NC_000001.11:g.(?_ 152951169)_(153495 655_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 152,951,169 | 153,495,655 |
| nssv15135447 | Submitted genomic | NC_000001.10:g.(?_ 152923645)_(153468 131_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 152,923,645 | 153,468,131 |
| nssv15135447 | Submitted genomic | NC_000001.9:g.(?_1 51190269)_(1517347 55_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 151,190,269 | 151,734,755 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135447 | GRCh37: NC_000001.10:g.(?_152923645)_(153468131_?)dup, GRCh38: NC_000001.11:g.(?_152951169)_(153495655_?)dup, NCBI36: NC_000001.9:g.(?_151190269)_(151734755_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000136561.4, VCV000147363.2 | 3 |