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dbVar

Database of genomic structural variation

nsv6636165

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:11,711,308

Description:GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2 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: 20439 SVs from 100 studies. See in: genome view

Remapped(Score: Good):2,785,592-14,496,899

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636165	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	2,785,592	14,496,899
nsv6636165	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	2,703,633	14,515,021

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330263	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002474523.1, VCV001808678.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18330263	Remapped	Good	NC_000023.11:g.(?_ 2785592)_(14496899 _?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	2,785,592	14,496,899
nssv18330263	Submitted genomic		NC_000023.10:g.(?_ 2703633)_(14515021 _?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	2,703,633	14,515,021

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	Copy number
nssv18330263	GRCh37: NC_000023.10:g.(?_2703633)_(14515021_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV002474523.1, VCV001808678.1	2

No genotype data were submitted for this variant

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