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dbVar

Database of genomic structural variation

nsv4447820

Organism: Homo sapiens

Study:nstd175 (Genome in a Bottle)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:329

Description:SVTYPE=DEL;REPTYPE=SIMPLEDEL
Publication(s):Genome in a Bottle

Links to Other Resources

Overlapping Genes

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: 194 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):98,452,912-98,453,240

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4447820	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	98,452,912	98,453,240
nsv4447820	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	99,465,140	99,465,468

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15760647	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15760647	Remapped	Perfect	NC_000008.11:g.984 52912_98453240del	GRCh38.p12	First Pass	NC_000008.11	Chr8	98,452,912	98,453,240
nssv15760647	Submitted genomic		NC_000008.10:g.994 65140_99465468del	GRCh37 (hg19)		NC_000008.10	Chr8	99,465,140	99,465,468

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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