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dbVar

Database of genomic structural variation

nsv6313234

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:130,586

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: 520 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):7,219,676-7,350,261

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6313234	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	7,219,676	7,350,261
nsv6313234	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	7,137,717	7,268,302

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972964	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001994536.3, VCV001452376.3
nssv18789064	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003111092.2, VCV002422954.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972964	Remapped	Perfect	NC_000023.11:g.(?_ 7219676)_(7350261_ ?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	7,219,676	7,350,261
nssv18789064	Remapped	Perfect	NC_000023.11:g.(?_ 7219676)_(7350261_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	7,219,676	7,350,261
nssv17972964	Submitted genomic		NC_000023.10:g.(?_ 7137717)_(7268302_ ?)del	GRCh37 (hg19)		NC_000023.10	ChrX	7,137,717	7,268,302
nssv18789064	Submitted genomic		NC_000023.10:g.(?_ 7137717)_(7268302_ ?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	7,137,717	7,268,302

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
nssv17972964	GRCh37: NC_000023.10:g.(?_7137717)_(7268302_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001994536.3, VCV001452376.3
nssv18789064	GRCh37: NC_000023.10:g.(?_7137717)_(7268302_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003111092.2, VCV002422954.2

No genotype data were submitted for this variant

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