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dbVar

Database of genomic structural variation

nsv4451686

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:2,166,946

Description:Single allele 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: 7402 SVs from 110 studies. See in: genome view

Remapped(Score: Good):10,532,308-12,699,253

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4451686	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	10,532,308	12,699,253
nsv4451686	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	10,642,984	12,810,067

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774192	deletion	Multiple	Multiple	not provided	not provided	ClinVar	RCV000844961.1, VCV000684477.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774192	Remapped	Good	NC_000019.10:g.(?_ 10532308)_(1269925 3_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	10,532,308	12,699,253
nssv15774192	Submitted genomic		NC_000019.9:g.(?_1 0642984)_(12810067 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	10,642,984	12,810,067

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
nssv15774192	GRCh37: NC_000019.9:g.(?_10642984)_(12810067_?)del	deletion	unknown	not provided	not provided	ClinVar	RCV000844961.1, VCV000684477.1	1

No genotype data were submitted for this variant

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