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dbVar

Database of genomic structural variation

nsv6748823

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:1,700

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: 136 SVs from 27 studies. See in: genome view

Submitted genomic99,420,901-99,422,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6748823	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	99,420,901	99,422,600
nsv6748823	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	100,342,058	100,343,757

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18696588	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
nssv18696588	Submitted genomic		NC_000004.12:g.994 20901_99422600dup	GRCh38 (hg38)		NC_000004.12	Chr4	99,420,901	99,422,600
nssv18696588	Remapped	Perfect	NC_000004.11:g.100 342058_100343757du p	GRCh37.p13	First Pass	NC_000004.11	Chr4	100,342,058	100,343,757

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)
nssv18696588	0.003	685	249566

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