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dbVar

Database of genomic structural variation

nsv6290185

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:8,167,773

Description:GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)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: 10075 SVs from 87 studies. See in: genome view

Remapped(Score: Good):105,538,514-113,706,286

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290185	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	105,538,514	113,706,286
nsv6290185	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	104,782,507	112,949,573

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955944	copy number gain	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001795543.4, VCV001328107.4	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955944	Remapped	Good	NC_000023.11:g.105 538514_113706286du p	GRCh38.p12	First Pass	NC_000023.11	ChrX	105,538,514	113,706,286
nssv17955944	Submitted genomic		NC_000023.10:g.104 782507_112949573du p	GRCh37 (hg19)		NC_000023.10	ChrX	104,782,507	112,949,573

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
nssv17955944	GRCh37: NC_000023.10:g.104782507_112949573dup	copy number gain	unknown	not provided	Likely pathogenic	ClinVar	RCV001795543.4, VCV001328107.4	2

No genotype data were submitted for this variant

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