nsv3902495
- 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:93,868
- Description:GRCh38/hg38 2q33.1(chr2:199309935-199403802)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: 315 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3902495 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 199,309,935 | 199,403,802 |
| nsv3902495 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 200,174,658 | 200,268,525 |
| nsv3902495 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 199,882,903 | 199,976,770 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121189 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052962.4, VCV000059162.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121189 | Submitted genomic | NC_000002.12:g.(?_ 199309935)_(199403 802_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 199,309,935 | 199,403,802 |
| nssv15121189 | Submitted genomic | NC_000002.11:g.(?_ 200174658)_(200268 525_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 200,174,658 | 200,268,525 |
| nssv15121189 | Submitted genomic | NC_000002.10:g.(?_ 199882903)_(199976 770_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 199,882,903 | 199,976,770 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121189 | GRCh37: NC_000002.11:g.(?_200174658)_(200268525_?)dup, GRCh38: NC_000002.12:g.(?_199309935)_(199403802_?)dup, NCBI36: NC_000002.10:g.(?_199882903)_(199976770_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052962.4, VCV000059162.1 | 3 |