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dbVar

Database of genomic structural variation

nsv4674800

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:458,936

Description:GRCh37/hg19 Xq25(chrX:128210719-128669654)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: 715 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):129,076,742-129,535,677

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674800	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	129,076,742	129,535,677
nsv4674800	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	128,210,719	128,669,654

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207576	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001007344.1, VCV000816390.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207576	Remapped	Perfect	NC_000023.11:g.(?_ 129076742)_(129535 677_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	129,076,742	129,535,677
nssv16207576	Submitted genomic		NC_000023.10:g.(?_ 128210719)_(128669 654_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	128,210,719	128,669,654

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
nssv16207576	GRCh37: NC_000023.10:g.(?_128210719)_(128669654_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001007344.1, VCV000816390.1	2

No genotype data were submitted for this variant

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