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dbVar

Database of genomic structural variation

nsv6699984

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:2,406

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 25 studies. See in: genome view

Submitted genomic12,812,833-12,815,238

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6699984	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	12,812,833	12,815,238
nsv6699984	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	12,854,332	12,856,737

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18472655	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
nssv18472655	Submitted genomic		NC_000003.12:g.128 12833_12815238del	GRCh38 (hg38)		NC_000003.12	Chr3	12,812,833	12,815,238
nssv18472655	Remapped	Perfect	NC_000003.11:g.128 54332_12856737del	GRCh37.p13	First Pass	NC_000003.11	Chr3	12,854,332	12,856,737

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)
nssv18472655	1.8e-05	5	275792

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