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dbVar

Database of genomic structural variation

nsv6319619

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:6,859

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: 113 SVs from 31 studies. See in: genome view

Submitted genomic23,767,857-23,774,715

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6319619	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	23,767,857	23,774,715
nsv6319619	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	24,094,347	24,101,205

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18202497	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18202497	Submitted genomic		NC_000001.11:g.237 67857_23774715dup	GRCh38 (hg38)		NC_000001.11	Chr1	23,767,857	23,774,715
nssv18202497	Remapped	Perfect	NC_000001.10:g.240 94347_24101205dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	24,094,347	24,101,205

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)
nssv18202497	<0.001	1	39034

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