nsv6309092
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:57
- Description:NM_001558.4(IL10RA):c.1181_1237del (p.Asn394_Ala413delinsThr) AND Inflammatory bowel disease 28
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 59 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 59 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6309092 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 117,999,085 | 117,999,141 |
| nsv6309092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 117,869,800 | 117,869,856 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974594 | deletion | Multiple | Multiple | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inflammatory bowel disease 28, autosomal recessive | Uncertain significance | ClinVar | RCV001910796.4, VCV001390648.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17974594 | Submitted genomic | NC_000011.10:g.117 999085_117999141de l | GRCh38 (hg38) | NC_000011.10 | Chr11 | 117,999,085 | 117,999,141 |
| nssv17974594 | Submitted genomic | NC_000011.9:g.1178 69800_117869856del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 117,869,800 | 117,869,856 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974594 | GRCh37: NC_000011.9:g.117869800_117869856del, GRCh38: NC_000011.10:g.117999085_117999141del | deletion | germline | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inflammatory bowel disease 28, autosomal recessive | Uncertain significance | ClinVar | RCV001910796.4, VCV001390648.4 |