nsv7096762
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,561,889
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3818 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3819 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096762 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 155,911,072 | 157,472,960 |
| nsv7096762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 155,338,082 | 156,899,968 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790543 | deletion | Multiple | Multiple | Autosomal recessive lymphoproliferative disease; LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1; Lymphoproliferative syndrome 1 | Pathogenic | ClinVar | RCV003116379.2, VCV002425364.3 |
| nssv18790544 | duplication | Multiple | Multiple | Autosomal recessive lymphoproliferative disease; LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1; Lymphoproliferative syndrome 1 | Uncertain significance | ClinVar | RCV003116380.2, VCV002425365.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790543 | Remapped | Perfect | NC_000005.10:g.(?_ 155911072)_(157472 960_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 155,911,072 | 157,472,960 |
| nssv18790544 | Remapped | Perfect | NC_000005.10:g.(?_ 155911072)_(157472 960_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 155,911,072 | 157,472,960 |
| nssv18790543 | Submitted genomic | NC_000005.9:g.(?_1 55338082)_(1568999 68_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,338,082 | 156,899,968 | ||
| nssv18790544 | Submitted genomic | NC_000005.9:g.(?_1 55338082)_(1568999 68_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 155,338,082 | 156,899,968 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790543 | GRCh37: NC_000005.9:g.(?_155338082)_(156899968_?)del | deletion | germline | Autosomal recessive lymphoproliferative disease; LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1; Lymphoproliferative syndrome 1 | Pathogenic | ClinVar | RCV003116379.2, VCV002425364.3 |
| nssv18790544 | GRCh37: NC_000005.9:g.(?_155338082)_(156899968_?)dup | duplication | germline | Autosomal recessive lymphoproliferative disease; LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1; Lymphoproliferative syndrome 1 | Uncertain significance | ClinVar | RCV003116380.2, VCV002425365.2 |