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dbVar

Database of genomic structural variation

nsv6112721

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:7,078,684

Description:GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)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: 10065 SVs from 98 studies. See in: genome view

Remapped(Score: Good):47,319,669-54,398,352

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112721	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	47,319,669	54,398,352
nsv6112721	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	47,179,068	54,424,785

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649954	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537899.4, VCV001180517.4	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17649954	Remapped	Good	NC_000023.11:g.473 19669_54398352dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	47,319,669	54,398,352
nssv17649954	Submitted genomic		NC_000023.10:g.471 79068_54424785dup	GRCh37 (hg19)		NC_000023.10	ChrX	47,179,068	54,424,785

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
nssv17649954	GRCh37: NC_000023.10:g.47179068_54424785dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV001537899.4, VCV001180517.4	2

No genotype data were submitted for this variant

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