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dbVar

Database of genomic structural variation

nsv5442264

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:116

Publication(s):Byrska-Bishop et al. 2022

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: 80 SVs from 23 studies. See in: genome view

Submitted genomic40,427,477-40,427,592

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5442264	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	40,427,477	40,427,592
nsv5442264	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	40,468,968	40,469,083

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16932299	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16932299	Submitted genomic		NC_000003.12:g.404 27477_40427592dup	GRCh38 (hg38)		NC_000003.12	Chr3	40,427,477	40,427,592
nssv16932299	Remapped	Perfect	NC_000003.11:g.404 68968_40469083dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	40,468,968	40,469,083

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)
nssv16932299	0.001	7	6404

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