nsv3896499
- 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:52,405,084
- Description:GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)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: 138510 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 138439 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 35790 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 |
|---|---|---|---|---|---|---|---|
| nsv3896499 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 189,436,149 | 241,841,232 |
| nsv3896499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 190,300,875 | 242,783,384 |
| nsv3896499 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 190,009,120 | 242,432,057 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148951 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142307.5, VCV000154206.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148951 | Submitted genomic | NC_000002.12:g.(?_ 189436149)_(241841 232_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 189,436,149 | 241,841,232 |
| nssv15148951 | Submitted genomic | NC_000002.11:g.(?_ 190300875)_(242783 384_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 190,300,875 | 242,783,384 |
| nssv15148951 | Submitted genomic | NC_000002.10:g.(?_ 190009120)_(242432 057_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 190,009,120 | 242,432,057 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148951 | GRCh37: NC_000002.11:g.(?_190300875)_(242783384_?)dup, GRCh38: NC_000002.12:g.(?_189436149)_(241841232_?)dup, NCBI36: NC_000002.10:g.(?_190009120)_(242432057_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142307.5, VCV000154206.2 | 3 |