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dbVar

Database of genomic structural variation

nsv5557690

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:sequence alteration
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:89,092

Description:complex variant
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: 426 SVs from 55 studies. See in: genome view

Submitted genomic130,393,596-130,482,687

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5557690	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	130,393,596	130,482,687
nsv5557690	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	131,405,842	131,494,933

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17017237	sequence alteration	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17017237	Submitted genomic		GRCh38 (hg38)		NC_000008.11	Chr8	130,393,596	130,482,687
nssv17017237	Remapped	Perfect	GRCh37.p13	First Pass	NC_000008.10	Chr8	131,405,842	131,494,933

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)
nssv17017237	<0.001	3	6404

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