Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

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

Links to Other Resources

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: 471 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):16,154,934-16,166,586

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

No genotype data were submitted for this variant

You are here: NCBI