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dbVar

Database of genomic structural variation

nsv7098328

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:45,236

Description:NC_000023.10:g.(?_7223067)_(7268302_?)dup 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: 382 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):7,305,026-7,350,261

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098328	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	7,305,026	7,350,261
nsv7098328	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	7,223,067	7,268,302

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789065	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003111093.2, VCV002422955.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789065	Remapped	Perfect	NC_000023.11:g.(?_ 7305026)_(7350261_ ?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	7,305,026	7,350,261
nssv18789065	Submitted genomic		NC_000023.10:g.(?_ 7223067)_(7268302_ ?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	7,223,067	7,268,302

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
nssv18789065	GRCh37: NC_000023.10:g.(?_7223067)_(7268302_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003111093.2, VCV002422955.2

No genotype data were submitted for this variant

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