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dbVar

Database of genomic structural variation

nsv4454842

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:21,505,330

Description:GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 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: 35047 SVs from 104 studies. See in: genome view

Remapped(Score: Good):2,272,393-23,777,722

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4454842	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	2,272,393	23,777,722
nsv4454842	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	2,190,434	23,795,839

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773414	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000849574.2, VCV000688883.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773414	Remapped	Good	NC_000023.11:g.(?_ 2272393)_(23777722 _?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	2,272,393	23,777,722
nssv15773414	Submitted genomic		NC_000023.10:g.(?_ 2190434)_(23795839 _?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	2,190,434	23,795,839

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
nssv15773414	GRCh37: NC_000023.10:g.(?_2190434)_(23795839_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000849574.2, VCV000688883.2	3

No genotype data were submitted for this variant

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