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dbVar

Database of genomic structural variation

nsv4453553

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:11,325,391

Description:GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)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: 20024 SVs from 100 studies. See in: genome view

Remapped(Score: Good):2,785,591-14,110,981

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4453553	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	2,785,591	14,110,981
nsv4453553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	2,703,632	14,129,100

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15775635	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000847649.2, VCV000686941.2	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15775635	Remapped	Good	NC_000023.11:g.(?_ 2785591)_(14110981 _?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	2,785,591	14,110,981
nssv15775635	Submitted genomic		NC_000023.10:g.(?_ 2703632)_(14129100 _?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	2,703,632	14,129,100

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
nssv15775635	GRCh37: NC_000023.10:g.(?_2703632)_(14129100_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000847649.2, VCV000686941.2	2

No genotype data were submitted for this variant

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