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dbVar

Database of genomic structural variation

nsv5980432

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,767,618

Description:
See descriptions for individual calls in download files

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: 4073 SVs from 80 studies. See in: genome view

Remapped(Score: Good):8,532,995-11,300,612

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5980432	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	8,532,995	11,300,612
nsv5980432	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	8,501,036	11,318,732

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17517491	duplication	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV001488307.3, VCV001148451.3
nssv18792036	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003107483.2, VCV002424250.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17517491	Remapped	Good	NC_000023.11:g.(?_ 8532995)_(11300612 _?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,532,995	11,300,612
nssv18792036	Remapped	Good	NC_000023.11:g.(?_ 8532995)_(11300612 _?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,532,995	11,300,612
nssv17517491	Submitted genomic		NC_000023.10:g.(?_ 8501036)_(11318732 _?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	8,501,036	11,318,732
nssv18792036	Submitted genomic		NC_000023.10:g.(?_ 8501036)_(11318732 _?)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,501,036	11,318,732

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
nssv17517491	GRCh37: NC_000023.10:g.(?_8501036)_(11318732_?)dup	duplication	germline	not provided	Likely benign	ClinVar	RCV001488307.3, VCV001148451.3
nssv18792036	GRCh37: NC_000023.10:g.(?_8501036)_(11318732_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003107483.2, VCV002424250.2

No genotype data were submitted for this variant

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