nsv3901338
- 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:169,013
- Description:GRCh38/hg38 2p16.3(chr2:50860917-51029929)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: 838 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 838 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901338 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 50,860,917 | 51,029,929 |
| nsv3901338 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 51,088,055 | 51,257,067 |
| nsv3901338 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 50,941,559 | 51,110,571 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134561 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137783.4, VCV000148717.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134561 | Submitted genomic | NC_000002.12:g.(?_ 50860917)_(5102992 9_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 50,860,917 | 51,029,929 |
| nssv15134561 | Submitted genomic | NC_000002.11:g.(?_ 51088055)_(5125706 7_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 51,088,055 | 51,257,067 |
| nssv15134561 | Submitted genomic | NC_000002.10:g.(?_ 50941559)_(5111057 1_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 50,941,559 | 51,110,571 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134561 | GRCh37: NC_000002.11:g.(?_51088055)_(51257067_?)del, GRCh38: NC_000002.12:g.(?_50860917)_(51029929_?)del, NCBI36: NC_000002.10:g.(?_50941559)_(51110571_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137783.4, VCV000148717.2 | 1 |