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dbVar

Database of genomic structural variation

nsv3909941

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:453,972

Description:NCBI36/hg18 20q13.2(chr20:53201914-53552706)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: 1420 SVs from 74 studies. See in: genome view

Remapped(Score: Pass):55,117,178-55,571,149

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3909941	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	55,117,178	55,117,178	55,571,149	55,571,149
nsv3909941	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	53,733,717	53,768,507	54,119,299	54,146,207
nsv3909941	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_004504304.1	Chr20\|NW_0 04504304.1	-	1	209,081	209,081
nsv3909941	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000020.9	Chr20	53,167,124	53,201,914	53,552,706	53,579,614

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15129686	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000453208.2, VCV000401226.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15129686	Remapped	Pass	NC_000020.11:g.(55 117178_55117178)_( 55571149_55571149) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	55,117,178	55,117,178	55,571,149	55,571,149
nssv15129686	Remapped	Pass	NW_004504304.1:g.( ?_1)_(209081_20908 1)del	GRCh37.p13	Second Pass	NW_004504304.1	Chr20\|NW_0 04504304.1	-	1	209,081	209,081
nssv15129686	Remapped	Perfect	NC_000020.10:g.(53 733717_53768507)_( 54119299_54146207) del	GRCh37.p13	First Pass	NC_000020.10	Chr20	53,733,717	53,768,507	54,119,299	54,146,207
nssv15129686	Submitted genomic		NC_000020.9:g.(531 67124_53201914)_(5 3552706_53579614)d el	NCBI36 (hg18)		NC_000020.9	Chr20	53,167,124	53,201,914	53,552,706	53,579,614

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
nssv15129686	NCBI36: NC_000020.9:g.(53167124_53201914)_(53552706_53579614)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000453208.2, VCV000401226.2	1

No genotype data were submitted for this variant

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