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dbVar

Database of genomic structural variation

nsv4729700

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:60,547

Description:GRCh37/hg19 11p14.1(chr11:30216157-30276703)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: 208 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):30,194,610-30,255,156

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4729700	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	30,194,610	30,255,156
nsv4729700	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	30,216,157	30,276,703

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16254178	copy number loss	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV001259101.1, VCV000979925.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16254178	Remapped	Perfect	NC_000011.10:g.(?_ 30194610)_(3025515 6_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	30,194,610	30,255,156
nssv16254178	Submitted genomic		NC_000011.9:g.(?_3 0216157)_(30276703 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	30,216,157	30,276,703

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
nssv16254178	GRCh37: NC_000011.9:g.(?_30216157)_(30276703_?)del	copy number loss	germline	not provided	Likely benign	ClinVar	RCV001259101.1, VCV000979925.1	1

No genotype data were submitted for this variant

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