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dbVar

Database of genomic structural variation

nsv6112812

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:524,959

Description:GRCh37/hg19 16p11.2(chr16:29675050-30200008)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: 1882 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):29,663,729-30,188,687

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6112812	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	29,663,729	30,188,687
nsv6112812	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	29,675,050	30,200,008

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17650027	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001532338.9, VCV001176676.10	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17650027	Remapped	Perfect	NC_000016.10:g.(?_ 29663729)_(3018868 7_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,663,729	30,188,687
nssv17650027	Submitted genomic		NC_000016.9:g.(?_2 9675050)_(30200008 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	29,675,050	30,200,008

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
nssv17650027	GRCh37: NC_000016.9:g.(?_29675050)_(30200008_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001532338.9, VCV001176676.10	1

No genotype data were submitted for this variant

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