nsv3908896
- 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:9,572,628
- Description:GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)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: 25320 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 25320 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 6793 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 |
|---|---|---|---|---|---|---|---|
| nsv3908896 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 6,531,172 | 16,103,799 |
| nsv3908896 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 6,671,304 | 16,243,921 |
| nsv3908896 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 6,588,755 | 16,161,372 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161517 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053978.7, VCV000060105.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161517 | Submitted genomic | NC_000002.12:g.(?_ 6531172)_(16103799 _?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 6,531,172 | 16,103,799 |
| nssv15161517 | Submitted genomic | NC_000002.11:g.(?_ 6671304)_(16243921 _?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 6,671,304 | 16,243,921 |
| nssv15161517 | Submitted genomic | NC_000002.10:g.(?_ 6588755)_(16161372 _?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 6,588,755 | 16,161,372 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161517 | GRCh37: NC_000002.11:g.(?_6671304)_(16243921_?)del, GRCh38: NC_000002.12:g.(?_6531172)_(16103799_?)del, NCBI36: NC_000002.10:g.(?_6588755)_(16161372_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053978.7, VCV000060105.1 | 1 |