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dbVar

Database of genomic structural variation

nsv7020788

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:133

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: 88 SVs from 12 studies. See in: genome view

Submitted genomic48,919,864-48,919,996

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7020788	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	48,919,864	48,919,996
nsv7020788	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	47,536,401	47,536,533

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18641590	duplication	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
nssv18641590	Submitted genomic		NC_000020.11:g.489 19864_48919996dup	GRCh38 (hg38)		NC_000020.11	Chr20	48,919,864	48,919,996
nssv18641590	Remapped	Perfect	NC_000020.10:g.475 36401_47536533dup	GRCh37.p13	First Pass	NC_000020.10	Chr20	47,536,401	47,536,533

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)
nssv18641590	4.6e-05	10	213914

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