nsv3907033
- 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:28,389,324
- Description:GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)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: 80869 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 80835 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 21250 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907033 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 30,341 | 28,419,664 |
| nsv3907033 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 30,341 | 28,642,531 |
| nsv3907033 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 20,341 | 28,496,035 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161534 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135398.8, VCV000146072.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161534 | Submitted genomic | NC_000002.12:g.(?_ 30341)_(28419664_? )dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 30,341 | 28,419,664 |
| nssv15161534 | Submitted genomic | NC_000002.11:g.(?_ 30341)_(28642531_? )dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 30,341 | 28,642,531 |
| nssv15161534 | Submitted genomic | NC_000002.10:g.(?_ 20341)_(28496035_? )dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 20,341 | 28,496,035 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161534 | GRCh37: NC_000002.11:g.(?_30341)_(28642531_?)dup, GRCh38: NC_000002.12:g.(?_30341)_(28419664_?)dup, NCBI36: NC_000002.10:g.(?_20341)_(28496035_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135398.8, VCV000146072.2 | 3 |