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dbVar

Database of genomic structural variation

nsv6634470

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:1,789,139

Description:GRCh37/hg19 11p14.1(chr11:27382897-29172035)x1 AND See cases

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: 3896 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):27,361,350-29,150,488

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6634470	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	27,361,350	29,150,488
nsv6634470	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	27,382,897	29,172,035

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326364	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV002292391.1, VCV001711090.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv18326364	Remapped	Perfect	NC_000011.10:g.(27 361350_?)_(?_29150 488)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	27,361,350	29,150,488
nssv18326364	Submitted genomic		NC_000011.9:g.(273 82897_?)_(?_291720 35)del	GRCh37 (hg19)		NC_000011.9	Chr11	27,382,897	29,172,035

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
nssv18326364	GRCh37: NC_000011.9:g.(27382897_?)_(?_29172035)del	copy number loss	unknown	See cases	Uncertain significance	ClinVar	RCV002292391.1, VCV001711090.1	1

No genotype data were submitted for this variant

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