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dbVar

Database of genomic structural variation

nsv4676094

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:420,550

Description:GRCh37/hg19 11q23.1-23.2(chr11:112466568-112887116)x1 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: 862 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):112,595,845-113,016,394

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4676094	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	112,595,845	113,016,394
nsv4676094	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	112,466,568	112,887,116

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208318	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001006449.1, VCV000815472.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208318	Remapped	Perfect	NC_000011.10:g.(?_ 112595845)_(113016 394_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	112,595,845	113,016,394
nssv16208318	Submitted genomic		NC_000011.9:g.(?_1 12466568)_(1128871 16_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	112,466,568	112,887,116

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
nssv16208318	GRCh37: NC_000011.9:g.(?_112466568)_(112887116_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV001006449.1, VCV000815472.1	1

No genotype data were submitted for this variant

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