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dbVar

Database of genomic structural variation

nsv7096067

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:124

Description:NC_000020.10:g.(?_13775474)_(13775597_?)del AND not provided

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: 78 SVs from 14 studies. See in: genome view

Remapped(Score: Perfect):13,794,828-13,794,951

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096067	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	13,794,828	13,794,951
nsv7096067	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	13,775,474	13,775,597

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787636	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003122638.2, VCV002426805.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787636	Remapped	Perfect	NC_000020.11:g.(?_ 13794828)_(1379495 1_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	13,794,828	13,794,951
nssv18787636	Submitted genomic		NC_000020.10:g.(?_ 13775474)_(1377559 7_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	13,775,474	13,775,597

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
nssv18787636	GRCh37: NC_000020.10:g.(?_13775474)_(13775597_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003122638.2, VCV002426805.2

No genotype data were submitted for this variant

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