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dbVar

Database of genomic structural variation

nsv5424635

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

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: 138 SVs from 35 studies. See in: genome view

Submitted genomic56,627,048-56,627,099

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5424635	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	56,627,048	56,627,099
nsv5424635	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	56,660,960	56,661,011

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17709428	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17709428	Submitted genomic		NC_000016.10:g.566 27048_56627099ins2 80	GRCh38 (hg38)		NC_000016.10	Chr16	56,627,048	56,627,099
nssv17709428	Remapped	Perfect	NC_000016.9:g.5666 0960_56661011ins28 0	GRCh37.p13	First Pass	NC_000016.9	Chr16	56,660,960	56,661,011

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)
nssv17709428	0.002	13	6404

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