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dbVar

Database of genomic structural variation

nsv6369827

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:2,303,261

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: 5161 SVs from 108 studies. See in: genome view

Submitted genomic52,164,358-54,467,618

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6369827	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	52,164,358	54,467,618
nsv6369827	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	52,198,374	54,501,645

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18209983	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18209983	Submitted genomic		NC_000003.12:g.521 64358_54467618dup	GRCh38 (hg38)		NC_000003.12	Chr3	52,164,358	54,467,618
nssv18209983	Remapped	Perfect	NC_000003.11:g.521 98374_54501645dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	52,198,374	54,501,645

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)
nssv18209983	<0.001	1	39304

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