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dbVar

Database of genomic structural variation

nsv6459408

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:600

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: 89 SVs from 23 studies. See in: genome view

Submitted genomic100,336,601-100,337,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6459408	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	100,336,601	100,337,200
nsv6459408	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	100,730,379	100,730,978

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17996657	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17996657	Submitted genomic		NC_000012.12:g.100 336601_100337200de l	GRCh38 (hg38)		NC_000012.12	Chr12	100,336,601	100,337,200
nssv17996657	Remapped	Perfect	NC_000012.11:g.100 730379_100730978de l	GRCh37.p13	First Pass	NC_000012.11	Chr12	100,730,379	100,730,978

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)
nssv17996657	<0.001	8	38152

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