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dbVar

Database of genomic structural variation

nsv6378293

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:336,921

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: 1170 SVs from 68 studies. See in: genome view

Submitted genomic37,047,457-37,384,377

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6378293	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	37,047,457	37,384,377
nsv6378293	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	37,047,559	37,384,479

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18213424	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18213424	Submitted genomic		NC_000005.10:g.370 47457_37384377dup	GRCh38 (hg38)		NC_000005.10	Chr5	37,047,457	37,384,377
nssv18213424	Remapped	Perfect	NC_000005.9:g.3704 7559_37384479dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	37,047,559	37,384,479

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)
nssv18213424	<0.001	2	39294

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