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dbVar

Database of genomic structural variation

nsv7094497

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:691,780

Description:
See descriptions for individual calls in download files

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: 3091 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):34,712,865-35,404,644

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094497	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	34,712,865	35,404,644
nsv7094497	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	35,182,071	35,873,850

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788278	deletion	Multiple	Multiple	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2; EDAID2; Ectodermal dysplasia and immunodeficiency 2; Hypohidrotic ectodermal dysplasia; Hypohidrotic ectodermal dysplasia with immunodeficiency	Uncertain significance	ClinVar	RCV003107717.2, VCV002424631.4
nssv18789572	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003113213.2, VCV002424631.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788278	Remapped	Perfect	NC_000014.9:g.(?_3 4712865)_(35404644 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	34,712,865	35,404,644
nssv18789572	Remapped	Perfect	NC_000014.9:g.(?_3 4712865)_(35404644 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	34,712,865	35,404,644
nssv18788278	Submitted genomic		NC_000014.8:g.(?_3 5182071)_(35873850 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	35,182,071	35,873,850
nssv18789572	Submitted genomic		NC_000014.8:g.(?_3 5182071)_(35873850 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	35,182,071	35,873,850

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
nssv18788278	GRCh37: NC_000014.8:g.(?_35182071)_(35873850_?)del	deletion	germline	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2; EDAID2; Ectodermal dysplasia and immunodeficiency 2; Hypohidrotic ectodermal dysplasia; Hypohidrotic ectodermal dysplasia with immunodeficiency	Uncertain significance	ClinVar	RCV003107717.2, VCV002424631.4
nssv18789572	GRCh37: NC_000014.8:g.(?_35182071)_(35873850_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003113213.2, VCV002424631.4

No genotype data were submitted for this variant

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