Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3874236

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:3,697,266

Description:Single allele 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: 11952 SVs from 106 studies. See in: genome view

Remapped(Score: Good):48,333,895-52,031,160

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3874236	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	48,333,895	52,031,160
nsv3874236	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	46,962,638	50,647,699

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15153177	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000677941.2, VCV000560064.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15153177	Remapped	Good	NC_000020.11:g.483 33895_52031160dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,333,895	52,031,160
nssv15153177	Submitted genomic		NC_000020.10:g.469 62638_50647699dup	GRCh37 (hg19)		NC_000020.10	Chr20	46,962,638	50,647,699

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
nssv15153177	GRCh37: NC_000020.10:g.46962638_50647699dup	duplication	de novo	not provided	Uncertain significance	ClinVar	RCV000677941.2, VCV000560064.2	3

No genotype data were submitted for this variant

You are here: NCBI