nsv4683654
- 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:251,527
- Description:NC_000001.11:g.(?_172658358)_(172909884_?)dup AND Autoimmune lymphoproliferative syndrome type 1
- Publication(s):Bleesing et al. 2006
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 602 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 605 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683654 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 172,658,358 | 172,909,884 |
| nsv4683654 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 172,627,498 | 172,879,024 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213890 | duplication | Multiple | Multiple | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS; Autoimmune Lymphoproliferative Syndrome; Autoimmune lymphoproliferative syndrome; Autoimmune lymphoproliferative syndrome | Uncertain significance | ClinVar | RCV001032299.1, VCV000831762.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213890 | Remapped | Perfect | NC_000001.11:g.(?_ 172658358)_(172909 884_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 172,658,358 | 172,909,884 |
| nssv16213890 | Submitted genomic | NC_000001.10:g.(?_ 172627498)_(172879 024_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 172,627,498 | 172,879,024 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213890 | GRCh37: NC_000001.10:g.(?_172627498)_(172879024_?)dup | duplication | germline | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS; Autoimmune Lymphoproliferative Syndrome; Autoimmune lymphoproliferative syndrome; Autoimmune lymphoproliferative syndrome | Uncertain significance | ClinVar | RCV001032299.1, VCV000831762.1 |