nsv6310745
- 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:1,449,287
- 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: 3304 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3306 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310745 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 206,768,636 | 208,217,922 |
| nsv6310745 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 206,941,981 | 208,391,267 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970523 | duplication | Multiple | Multiple | Inflammation of the large intestine; Inflammatory bowel disease; Inflammatory bowel disease | Uncertain significance | ClinVar | RCV001916125.3, VCV001409891.3 |
| nssv17975171 | duplication | Multiple | Multiple | Common variable immunodeficiency; Common variable immunodeficiency 7; IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | Uncertain significance | ClinVar | RCV001939950.3, VCV001409891.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970523 | Remapped | Perfect | NC_000001.11:g.(?_ 206768636)_(208217 922_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,768,636 | 208,217,922 |
| nssv17975171 | Remapped | Perfect | NC_000001.11:g.(?_ 206768636)_(208217 922_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 206,768,636 | 208,217,922 |
| nssv17970523 | Submitted genomic | NC_000001.10:g.(?_ 206941981)_(208391 267_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 206,941,981 | 208,391,267 | ||
| nssv17975171 | Submitted genomic | NC_000001.10:g.(?_ 206941981)_(208391 267_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 206,941,981 | 208,391,267 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970523 | GRCh37: NC_000001.10:g.(?_206941981)_(208391267_?)dup | duplication | germline | Inflammation of the large intestine; Inflammatory bowel disease; Inflammatory bowel disease | Uncertain significance | ClinVar | RCV001916125.3, VCV001409891.3 |
| nssv17975171 | GRCh37: NC_000001.10:g.(?_206941981)_(208391267_?)dup | duplication | germline | Common variable immunodeficiency; Common variable immunodeficiency 7; IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | Uncertain significance | ClinVar | RCV001939950.3, VCV001409891.3 |