nsv3890287
- 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:105,475
- Description:
GRCh38/hg38 2p25.3(chr2:1413693-1519167)x4 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: 836 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 836 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3890287 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 1,413,693 | 1,519,167 |
| nsv3890287 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 1,417,465 | 1,522,939 |
| nsv3890287 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 1,396,472 | 1,501,946 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139498 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142248.4, VCV000154111.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139498 | Submitted genomic | NC_000002.12:g.(?_ 1413693)_(1519167_ ?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 1,413,693 | 1,519,167 |
| nssv15139498 | Submitted genomic | NC_000002.11:g.(?_ 1417465)_(1522939_ ?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 1,417,465 | 1,522,939 |
| nssv15139498 | Submitted genomic | NC_000002.10:g.(?_ 1396472)_(1501946_ ?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,396,472 | 1,501,946 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139498 | GRCh37: NC_000002.11:g.(?_1417465)_(1522939_?)dup, GRCh38: NC_000002.12:g.(?_1413693)_(1519167_?)dup, NCBI36: NC_000002.10:g.(?_1396472)_(1501946_?)dup | copy number gain | biparental | See cases | Uncertain significance | ClinVar | RCV000142248.4, VCV000154111.2 | 4 |