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dbVar

Database of genomic structural variation

nsv5557181

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:9

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: 102 SVs from 17 studies. See in: genome view

Submitted genomic218,583,717-218,583,725

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5557181	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	218,583,717	218,583,725
nsv5557181	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	219,448,440	219,448,448

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16928242	sequence alteration	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16928242	Submitted genomic		GRCh38 (hg38)		NC_000002.12	Chr2	218,583,717	218,583,725
nssv16928242	Remapped	Perfect	GRCh37.p13	First Pass	NC_000002.11	Chr2	219,448,440	219,448,448

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)
nssv16928242	<0.001	2	6404

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