nsv3901052
- 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:264,922
- Description:GRCh38/hg38 2p23.2(chr2:28689225-28954146)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: 798 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 798 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901052 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 28,689,225 | 28,954,146 |
| nsv3901052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 28,912,091 | 29,177,012 |
| nsv3901052 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 28,765,595 | 29,030,516 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122275 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141353.3, VCV000152846.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122275 | Submitted genomic | NC_000002.12:g.(?_ 28689225)_(2895414 6_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 28,689,225 | 28,954,146 |
| nssv15122275 | Submitted genomic | NC_000002.11:g.(?_ 28912091)_(2917701 2_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 28,912,091 | 29,177,012 |
| nssv15122275 | Submitted genomic | NC_000002.10:g.(?_ 28765595)_(2903051 6_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 28,765,595 | 29,030,516 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122275 | GRCh37: NC_000002.11:g.(?_28912091)_(29177012_?)dup, GRCh38: NC_000002.12:g.(?_28689225)_(28954146_?)dup, NCBI36: NC_000002.10:g.(?_28765595)_(29030516_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141353.3, VCV000152846.1 | 3 |