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dbVar

Database of genomic structural variation

nsv7098540

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:101,010

Description:NC_000023.10:g.(?_53560270)_(53661270_?)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: 222 SVs from 37 studies. See in: genome view

Remapped(Score: Good):53,533,309-53,634,318

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098540	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	53,533,309	53,634,318
nsv7098540	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	53,560,270	53,661,270

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787790	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003122802.2, VCV002426969.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787790	Remapped	Good	NC_000023.11:g.(?_ 53533309)_(5363431 8_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	53,533,309	53,634,318
nssv18787790	Submitted genomic		NC_000023.10:g.(?_ 53560270)_(5366127 0_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	53,560,270	53,661,270

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
nssv18787790	GRCh37: NC_000023.10:g.(?_53560270)_(53661270_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003122802.2, VCV002426969.2

No genotype data were submitted for this variant

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