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dbVar

Database of genomic structural variation

nsv5398706

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:1

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: 84 SVs from 15 studies. See in: genome view

Submitted genomic72,117,121-72,117,121

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5398706	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	72,117,121	72,117,121
nsv5398706	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	71,412,948	71,412,948

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16967493	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16967493	Submitted genomic		NC_000005.10:g.721 17121_72117122ins3 22	GRCh38 (hg38)		NC_000005.10	Chr5	72,117,121	72,117,121
nssv16967493	Remapped	Perfect	NC_000005.9:g.7141 2948_71412949ins32 2	GRCh37.p13	First Pass	NC_000005.9	Chr5	71,412,948	71,412,948

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)
nssv16967493	0.102	612	6018

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