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dbVar

Database of genomic structural variation

nsv6636044

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:196,733

Description:Single allele 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: 691 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):32,823,397-33,020,129

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6636044	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,823,397	32,844,773	32,849,845	33,020,129
nsv6636044	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	32,841,514	32,862,890	32,867,962	33,038,246

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18329043	duplication	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002475205.1, VCV001807248.1
nssv18329045	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002475207.1, VCV001807250.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18329043	Remapped	Perfect	NC_000023.11:g.(32 823397_32844773)_( 32849845_33020129) dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,823,397	32,844,773	32,849,845	33,020,129
nssv18329045	Remapped	Perfect	NC_000023.11:g.(32 823397_32844773)_( 32849845_33020129) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,823,397	32,844,773	32,849,845	33,020,129
nssv18329043	Submitted genomic		NC_000023.10:g.(32 841514_32862890)_( 32867962_33038246) dup	GRCh37 (hg19)		NC_000023.10	ChrX	32,841,514	32,862,890	32,867,962	33,038,246
nssv18329045	Submitted genomic		NC_000023.10:g.(32 841514_32862890)_( 32867962_33038246) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,841,514	32,862,890	32,867,962	33,038,246

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
nssv18329043	GRCh37: NC_000023.10:g.(32841514_32862890)_(32867962_33038246)dup	duplication	unknown	not provided	Pathogenic	ClinVar	RCV002475205.1, VCV001807248.1
nssv18329045	GRCh37: NC_000023.10:g.(32841514_32862890)_(32867962_33038246)del	deletion	unknown	not provided	Pathogenic	ClinVar	RCV002475207.1, VCV001807250.1

No genotype data were submitted for this variant

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