nsv3892523
- 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:5,124,607
- Description:GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)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: 12683 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 12686 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 3404 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892523 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 204,906,843 | 210,031,449 |
| nsv3892523 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 205,771,566 | 210,896,173 |
| nsv3892523 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 205,479,811 | 210,604,418 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137579 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139629.4, VCV000150829.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137579 | Submitted genomic | NC_000002.12:g.(?_ 204906843)_(210031 449_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 204,906,843 | 210,031,449 |
| nssv15137579 | Submitted genomic | NC_000002.11:g.(?_ 205771566)_(210896 173_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 205,771,566 | 210,896,173 |
| nssv15137579 | Submitted genomic | NC_000002.10:g.(?_ 205479811)_(210604 418_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 205,479,811 | 210,604,418 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137579 | GRCh37: NC_000002.11:g.(?_205771566)_(210896173_?)del, GRCh38: NC_000002.12:g.(?_204906843)_(210031449_?)del, NCBI36: NC_000002.10:g.(?_205479811)_(210604418_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139629.4, VCV000150829.2 | 1 |