nsv7094093
- 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:5,000,031
- Description:
See descriptions for individual calls in download files - Publication(s):Crow et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 14892 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 14822 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094093 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 65,206,443 | 70,206,473 |
| nsv7094093 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 64,973,914 | 70,052,579 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788313 | duplication | Multiple | Multiple | FADD-related immunodeficiency; FADD-related immunodeficiency; IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION; IMD90 | Uncertain significance | ClinVar | RCV003107753.1, VCV002424770.5 |
| nssv18789676 | duplication | Multiple | Multiple | AICARDI-GOUTIERES SYNDROME 3; AGS3; Aicardi Goutieres syndrome 3; Aicardi-Goutières Syndrome; Aicardi-Goutières syndrome | Uncertain significance | ClinVar | RCV003113322.2, VCV002424770.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788313 | Remapped | Good | NC_000011.10:g.(?_ 65206443)_(7020647 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 65,206,443 | 70,206,473 |
| nssv18789676 | Remapped | Good | NC_000011.10:g.(?_ 65206443)_(7020647 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 65,206,443 | 70,206,473 |
| nssv18788313 | Submitted genomic | NC_000011.9:g.(?_6 4973914)_(70052579 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 64,973,914 | 70,052,579 | ||
| nssv18789676 | Submitted genomic | NC_000011.9:g.(?_6 4973914)_(70052579 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 64,973,914 | 70,052,579 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788313 | GRCh37: NC_000011.9:g.(?_64973914)_(70052579_?)dup | duplication | germline | FADD-related immunodeficiency; FADD-related immunodeficiency; IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION; IMD90 | Uncertain significance | ClinVar | RCV003107753.1, VCV002424770.5 |
| nssv18789676 | GRCh37: NC_000011.9:g.(?_64973914)_(70052579_?)dup | duplication | germline | AICARDI-GOUTIERES SYNDROME 3; AGS3; Aicardi Goutieres syndrome 3; Aicardi-Goutières Syndrome; Aicardi-Goutières syndrome | Uncertain significance | ClinVar | RCV003113322.2, VCV002424770.5 |