nsv5380725
- 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:1,977,417
- Description:
See descriptions for individual calls in download files - Publication(s):Sparks 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: 5309 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 5311 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380725 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 45,805,802 | 47,783,218 |
| nsv5380725 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 45,827,353 | 47,804,770 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866022 | duplication | Multiple | Multiple | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C; Leukocyte adhesion deficiency; Leukocyte adhesion deficiency type II; Leukocyte adhesion deficiency type II; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001296459.1, VCV001000344.1 |
| nssv18786990 | deletion | Multiple | Multiple | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C; Leukocyte adhesion deficiency; Leukocyte adhesion deficiency type II; Leukocyte adhesion deficiency type II; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003119908.2, VCV002426467.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866022 | Remapped | Perfect | NC_000011.10:g.(?_ 45805802)_(4778321 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 45,805,802 | 47,783,218 |
| nssv18786990 | Remapped | Perfect | NC_000011.10:g.(?_ 45805802)_(4778321 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 45,805,802 | 47,783,218 |
| nssv16866022 | Submitted genomic | NC_000011.9:g.(?_4 5827353)_(47804770 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 45,827,353 | 47,804,770 | ||
| nssv18786990 | Submitted genomic | NC_000011.9:g.(?_4 5827353)_(47804770 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 45,827,353 | 47,804,770 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866022 | GRCh37: NC_000011.9:g.(?_45827353)_(47804770_?)dup | duplication | germline | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C; Leukocyte adhesion deficiency; Leukocyte adhesion deficiency type II; Leukocyte adhesion deficiency type II; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001296459.1, VCV001000344.1 |
| nssv18786990 | GRCh37: NC_000011.9:g.(?_45827353)_(47804770_?)del | deletion | germline | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C; Leukocyte adhesion deficiency; Leukocyte adhesion deficiency type II; Leukocyte adhesion deficiency type II; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003119908.2, VCV002426467.3 |