nsv3899100
- 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:1,173,078
- Description:GRCh38/hg38 1q41(chr1:217558925-218732002)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: 2945 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2947 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 696 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899100 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 217,558,925 | 218,732,002 |
| nsv3899100 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 217,732,267 | 218,905,344 |
| nsv3899100 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 215,798,890 | 216,971,967 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138358 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142313.5, VCV000154219.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138358 | Submitted genomic | NC_000001.11:g.(?_ 217558925)_(218732 002_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 217,558,925 | 218,732,002 |
| nssv15138358 | Submitted genomic | NC_000001.10:g.(?_ 217732267)_(218905 344_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 217,732,267 | 218,905,344 |
| nssv15138358 | Submitted genomic | NC_000001.9:g.(?_2 15798890)_(2169719 67_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 215,798,890 | 216,971,967 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138358 | GRCh37: NC_000001.10:g.(?_217732267)_(218905344_?)dup, GRCh38: NC_000001.11:g.(?_217558925)_(218732002_?)dup, NCBI36: NC_000001.9:g.(?_215798890)_(216971967_?)dup | copy number gain | see ClinVar for details | See cases | Uncertain significance | ClinVar | RCV000142313.5, VCV000154219.2 | 3 |