nsv3900249
- 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:6,952,396
- Description:GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 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: 16633 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 16633 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 4995 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900249 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 174,236,451 | 181,188,846 |
| nsv3900249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,101,179 | 182,053,573 |
| nsv3900249 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 174,809,425 | 181,761,818 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139319 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143597.5, VCV000155530.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139319 | Submitted genomic | NC_000002.12:g.(?_ 174236451)_(181188 846_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 174,236,451 | 181,188,846 |
| nssv15139319 | Submitted genomic | NC_000002.11:g.(?_ 175101179)_(182053 573_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 175,101,179 | 182,053,573 |
| nssv15139319 | Submitted genomic | NC_000002.10:g.(?_ 174809425)_(181761 818_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 174,809,425 | 181,761,818 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139319 | GRCh37: NC_000002.11:g.(?_175101179)_(182053573_?)del, GRCh38: NC_000002.12:g.(?_174236451)_(181188846_?)del, NCBI36: NC_000002.10:g.(?_174809425)_(181761818_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143597.5, VCV000155530.2 | 1 |