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dbVar

Database of genomic structural variation

nsv6358555

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:228,239

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: 820 SVs from 76 studies. See in: genome view

Submitted genomic47,223,435-47,451,673

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6358555	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	47,223,435	47,451,673
nsv6358555	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	47,264,925	47,493,163

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18209303	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18209303	Submitted genomic		NC_000003.12:g.472 23435_47451673dup	GRCh38 (hg38)		NC_000003.12	Chr3	47,223,435	47,451,673
nssv18209303	Remapped	Perfect	NC_000003.11:g.472 64925_47493163dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	47,264,925	47,493,163

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)
nssv18209303	<0.001	1	39264

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