nsv3904684
- 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:1,637,745
- Description:GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)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: 3676 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3673 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 949 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904684 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 70,709,155 | 72,346,899 |
| nsv3904684 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 70,936,287 | 72,574,028 |
| nsv3904684 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 70,789,795 | 72,427,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133326 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000133956.4, VCV000144474.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133326 | Submitted genomic | NC_000002.12:g.(?_ 70709155)_(7234689 9_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 70,709,155 | 72,346,899 |
| nssv15133326 | Submitted genomic | NC_000002.11:g.(?_ 70936287)_(7257402 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 70,936,287 | 72,574,028 |
| nssv15133326 | Submitted genomic | NC_000002.10:g.(?_ 70789795)_(7242753 6_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 70,789,795 | 72,427,536 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133326 | GRCh37: NC_000002.11:g.(?_70936287)_(72574028_?)dup, GRCh38: NC_000002.12:g.(?_70709155)_(72346899_?)dup, NCBI36: NC_000002.10:g.(?_70789795)_(72427536_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000133956.4, VCV000144474.2 | 3 |