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dbVar

Database of genomic structural variation

nsv7030512

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:8,672

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: 106 SVs from 26 studies. See in: genome view

Submitted genomic48,814,427-48,823,098

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7030512	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	48,814,427	48,823,098
nsv7030512	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	47,430,964	47,439,635

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18433091	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18433091	Submitted genomic		NC_000020.11:g.488 14427_48823098del	GRCh38 (hg38)		NC_000020.11	Chr20	48,814,427	48,823,098
nssv18433091	Remapped	Perfect	NC_000020.10:g.474 30964_47439635del	GRCh37.p13	First Pass	NC_000020.10	Chr20	47,430,964	47,439,635

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)
nssv18433091	4e-06	1	276252

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