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dbVar

Database of genomic structural variation

nsv6824960

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:8,108

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: 92 SVs from 25 studies. See in: genome view

Submitted genomic53,711,699-53,719,806

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6824960	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	53,711,699	53,719,806
nsv6824960	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	53,779,392	53,787,499

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18545988	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
nssv18545988	Submitted genomic		NC_000007.14:g.537 11699_53719806del	GRCh38 (hg38)		NC_000007.14	Chr7	53,711,699	53,719,806
nssv18545988	Remapped	Perfect	NC_000007.13:g.537 79392_53787499del	GRCh37.p13	First Pass	NC_000007.13	Chr7	53,779,392	53,787,499

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)
nssv18545988	2.1e-05	6	275774

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