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dbVar

Database of genomic structural variation

nsv6634423

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:1,684,462

Description:GRCh37/hg19 17q22(chr17:55043662-56728123)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: 4604 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):56,966,301-58,650,762

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6634423	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	56,966,301	58,650,762
nsv6634423	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	55,043,662	56,728,123

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326372	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV002292214.1, VCV001710927.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv18326372	Remapped	Perfect	NC_000017.11:g.(56 966301_?)_(?_58650 762)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	56,966,301	58,650,762
nssv18326372	Submitted genomic		NC_000017.10:g.(55 043662_?)_(?_56728 123)del	GRCh37 (hg19)		NC_000017.10	Chr17	55,043,662	56,728,123

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
nssv18326372	GRCh37: NC_000017.10:g.(55043662_?)_(?_56728123)del	copy number loss	unknown	See cases	Pathogenic	ClinVar	RCV002292214.1, VCV001710927.1	1

No genotype data were submitted for this variant

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