nsv3874447
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:144,058
- Description:GRCh37/hg19 2p16.3(chr2:51113043-51257100)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: 747 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 747 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3874447 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,885,905 | 51,029,962 |
| nsv3874447 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 51,113,043 | 51,257,100 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143545 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511342.2, VCV000442596.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143545 | Remapped | Perfect | NC_000002.12:g.(?_ 50885905)_(5102996 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,885,905 | 51,029,962 |
| nssv15143545 | Submitted genomic | NC_000002.11:g.(?_ 51113043)_(5125710 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 51,113,043 | 51,257,100 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15143545 | GRCh37: NC_000002.11:g.(?_51113043)_(51257100_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000511342.2, VCV000442596.2 | 1 |