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dbVar

Database of genomic structural variation

nsv6516267

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,138

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: 116 SVs from 34 studies. See in: genome view

Submitted genomic11,406,809-11,407,946

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6516267	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	11,406,809	11,407,946
nsv6516267	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	11,517,485	11,518,622

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18045003	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18045003	Submitted genomic		NC_000019.10:g.114 06809_11407946del	GRCh38 (hg38)		NC_000019.10	Chr19	11,406,809	11,407,946
nssv18045003	Remapped	Perfect	NC_000019.9:g.1151 7485_11518622del	GRCh37.p13	First Pass	NC_000019.9	Chr19	11,517,485	11,518,622

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18045003	0.006	216	39210

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