nsv3893853
- 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:21,695,331
- Description:GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)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: 49911 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 49944 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 13636 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3893853 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 154,294,042 | 175,989,372 |
| nsv3893853 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 155,150,555 | 176,854,100 |
| nsv3893853 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 154,858,801 | 176,562,346 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139506 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142286.6, VCV000154177.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139506 | Submitted genomic | NC_000002.12:g.(?_ 154294042)_(175989 372_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 154,294,042 | 175,989,372 |
| nssv15139506 | Submitted genomic | NC_000002.11:g.(?_ 155150555)_(176854 100_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 155,150,555 | 176,854,100 |
| nssv15139506 | Submitted genomic | NC_000002.10:g.(?_ 154858801)_(176562 346_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 154,858,801 | 176,562,346 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139506 | GRCh37: NC_000002.11:g.(?_155150555)_(176854100_?)dup, GRCh38: NC_000002.12:g.(?_154294042)_(175989372_?)dup, NCBI36: NC_000002.10:g.(?_154858801)_(176562346_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142286.6, VCV000154177.2 | 3 |