nsv3908265
- 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:126,678
- Description:GRCh38/hg38 2p16.3(chr2:48634764-48761441)x0 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: 411 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908265 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 48,634,764 | 48,761,441 |
| nsv3908265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 48,861,903 | 48,988,580 |
| nsv3908265 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 48,715,407 | 48,842,084 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137727 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140457.4, VCV000151770.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137727 | Submitted genomic | NC_000002.12:g.(?_ 48634764)_(4876144 1_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 48,634,764 | 48,761,441 |
| nssv15137727 | Submitted genomic | NC_000002.11:g.(?_ 48861903)_(4898858 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 48,861,903 | 48,988,580 |
| nssv15137727 | Submitted genomic | NC_000002.10:g.(?_ 48715407)_(4884208 4_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 48,715,407 | 48,842,084 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137727 | GRCh37: NC_000002.11:g.(?_48861903)_(48988580_?)del, GRCh38: NC_000002.12:g.(?_48634764)_(48761441_?)del, NCBI36: NC_000002.10:g.(?_48715407)_(48842084_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV000140457.4, VCV000151770.2 | 0 |