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dbVar

Database of genomic structural variation

nsv5559812

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:13

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

Submitted genomic80,222,528-80,222,540

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5559812	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	80,222,528	80,222,540
nsv5559812	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	78,196,327	78,196,339

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17714982	sequence alteration	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17714982	Submitted genomic		GRCh38 (hg38)		NC_000017.11	Chr17	80,222,528	80,222,540
nssv17714982	Remapped	Perfect	GRCh37.p13	First Pass	NC_000017.10	Chr17	78,196,327	78,196,339

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)
nssv17714982	<0.001	1	6404

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