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dbVar

Database of genomic structural variation

nsv4675518

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:1,347,596

Description:GRCh37/hg19 11p13(chr11:33221821-34569417)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: 4174 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):33,200,275-34,547,870

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4675518	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	33,200,275	34,547,870
nsv4675518	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	33,221,821	34,569,417

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208910	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001006402.1, VCV000815425.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208910	Remapped	Perfect	NC_000011.10:g.(?_ 33200275)_(3454787 0_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	33,200,275	34,547,870
nssv16208910	Submitted genomic		NC_000011.9:g.(?_3 3221821)_(34569417 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	33,221,821	34,569,417

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
nssv16208910	GRCh37: NC_000011.9:g.(?_33221821)_(34569417_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV001006402.1, VCV000815425.1	1

No genotype data were submitted for this variant

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