nsv4683988
- 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:11,655
- Description:GRCh37/hg19 16p13.11(chr16:16248791-16260443) AND Arterial calcification, generalized, of infancy, 2
- Publication(s):Ferreira et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 471 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 471 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4683988 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,154,934 | 16,166,586 |
nsv4683988 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,812,862 | 1,824,516 |
nsv4683988 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 16,248,791 | 16,260,443 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16214887 | copy number loss | Multiple | Multiple | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2; Generalized Arterial Calcification of Infancy; Generalized arterial calcification of infancy; Generalized arterial calcification of infancy 2 | Pathogenic | ClinVar | RCV001089969.2, VCV000870399.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16214887 | Remapped | Good | NT_187607.1:g.(?_1 812862)_(1824516_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,812,862 | 1,824,516 |
nssv16214887 | Remapped | Perfect | NC_000016.10:g.(?_ 16154934)_(1616658 6_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,154,934 | 16,166,586 |
nssv16214887 | Submitted genomic | NC_000016.9:g.(?_1 6248791)_(16260443 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 16,248,791 | 16,260,443 |
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 |
---|---|---|---|---|---|---|---|
nssv16214887 | GRCh37: NC_000016.9:g.(?_16248791)_(16260443_?)del | copy number loss | maternal | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2; Generalized Arterial Calcification of Infancy; Generalized arterial calcification of infancy; Generalized arterial calcification of infancy 2 | Pathogenic | ClinVar | RCV001089969.2, VCV000870399.2 |