nsv3902360
- 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:121,603
- Description:
GRCh38/hg38 2p25.3(chr2:84669-206271)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: 781 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 781 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3902360 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 84,669 | 206,271 |
| nsv3902360 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 84,669 | 206,271 |
| nsv3902360 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 74,669 | 196,271 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133279 | copy number loss | Multiple | Multiple | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000133671.6, VCV000144189.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133279 | Submitted genomic | NC_000002.12:g.(?_ 84669)_(206271_?)d el | GRCh38 (hg38) | NC_000002.12 | Chr2 | 84,669 | 206,271 |
| nssv15133279 | Submitted genomic | NC_000002.11:g.(?_ 84669)_(206271_?)d el | GRCh37 (hg19) | NC_000002.11 | Chr2 | 84,669 | 206,271 |
| nssv15133279 | Submitted genomic | NC_000002.10:g.(?_ 74669)_(196271_?)d el | NCBI36 (hg18) | NC_000002.10 | Chr2 | 74,669 | 196,271 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133279 | GRCh37: NC_000002.11:g.(?_84669)_(206271_?)del, GRCh38: NC_000002.12:g.(?_84669)_(206271_?)del, NCBI36: NC_000002.10:g.(?_74669)_(196271_?)del | copy number loss | not provided | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000133671.6, VCV000144189.3 | 1 |