nsv7094047
- 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:4,615,826
- Description:NC_000012.11:g.(?_4368352)_(9027607_?)dup AND Lymphoproliferative syndrome 2
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 16091 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 16057 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094047 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 4,259,186 | 8,875,011 |
| nsv7094047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 4,368,352 | 9,027,607 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791775 | duplication | Multiple | Multiple | Autosomal recessive lymphoproliferative disease; LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2; Lymphoproliferative syndrome 2 | Uncertain significance | ClinVar | RCV003105682.2, VCV002423987.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791775 | Remapped | Good | NC_000012.12:g.(?_ 4259186)_(8875011_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 4,259,186 | 8,875,011 |
| nssv18791775 | Submitted genomic | NC_000012.11:g.(?_ 4368352)_(9027607_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 4,368,352 | 9,027,607 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791775 | GRCh37: NC_000012.11:g.(?_4368352)_(9027607_?)dup | duplication | germline | Autosomal recessive lymphoproliferative disease; LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2; Lymphoproliferative syndrome 2 | Uncertain significance | ClinVar | RCV003105682.2, VCV002423987.3 |