nsv7094168
- 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:155
- Description:NC_000011.9:g.(?_4045083)_(4045237_?)dup AND multiple conditions
- ClinVar: RCV003113218.2
- ClinVar: VCV002424636.2
- MONDO: 0008051
- MONDO: 0008497
- MONDO: 0013008
- MedGen: C0410207
- MedGen: C1861451
- MedGen: C2748557
- OMIM: 160565
- OMIM: 185070
- OMIM: 605921.0001
- OMIM: 605921.0002
- OMIM: 605921.0003
- OMIM: 605921.0011
- OMIM: 605921.0012
- OMIM: 612783
- OMIM: PS160565
- Orphanet: 169090
- Orphanet: 317430
- Orphanet: 3204
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 42 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094168 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 4,023,853 | 4,024,007 |
| nsv7094168 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 4,045,083 | 4,045,237 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789576 | duplication | Multiple | Multiple | Combined immunodeficiency due to CRAC channel dysfunction; Combined immunodeficiency due to STIM1 deficiency; IMMUNODEFICIENCY 10; IMD10; Immune dysfunction with T-cell inactivation due to calcium entry defect 2; MYOPATHY, TUBULAR AGGREGATE, 1; TAM1; Myopathy with tubular aggregates; Myopathy, tubular aggregate; STORMORKEN SYNDROME; STRMK; See individual phenotypes in OMIM allelic variants; Stormorken syndrome; Stormorken-Sjaastad-Langslet syndrome | Likely pathogenic | ClinVar | RCV003113218.2, VCV002424636.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789576 | Remapped | Perfect | NC_000011.10:g.(?_ 4023853)_(4024007_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,023,853 | 4,024,007 |
| nssv18789576 | Submitted genomic | NC_000011.9:g.(?_4 045083)_(4045237_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 4,045,083 | 4,045,237 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789576 | GRCh37: NC_000011.9:g.(?_4045083)_(4045237_?)dup | duplication | germline | Combined immunodeficiency due to CRAC channel dysfunction; Combined immunodeficiency due to STIM1 deficiency; IMMUNODEFICIENCY 10; IMD10; Immune dysfunction with T-cell inactivation due to calcium entry defect 2; MYOPATHY, TUBULAR AGGREGATE, 1; TAM1; Myopathy with tubular aggregates; Myopathy, tubular aggregate; STORMORKEN SYNDROME; STRMK; See individual phenotypes in OMIM allelic variants; Stormorken syndrome; Stormorken-Sjaastad-Langslet syndrome | Likely pathogenic | ClinVar | RCV003113218.2, VCV002424636.2 |