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dbVar

Database of genomic structural variation

nsv6290626

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:379,614

Description:GRCh37/hg19 Xp11.3(chrX:44193658-44573271)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: 1060 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):44,334,412-44,714,025

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6290626	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	44,334,412	44,714,025
nsv6290626	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	44,193,658	44,573,271

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17956687	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001827865.1, VCV001340556.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17956687	Remapped	Perfect	NC_000023.11:g.(?_ 44334412)_(4471402 5_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	44,334,412	44,714,025
nssv17956687	Submitted genomic		NC_000023.10:g.(?_ 44193658)_(4457327 1_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	44,193,658	44,573,271

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
nssv17956687	GRCh37: NC_000023.10:g.(?_44193658)_(44573271_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001827865.1, VCV001340556.1	2

No genotype data were submitted for this variant

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