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dbVar

Database of genomic structural variation

nsv5400357

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

Submitted genomic42,796,927-42,796,927

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5400357	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	42,796,927	42,796,927
nsv5400357	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	43,024,067	43,024,067

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16911606	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16911606	Submitted genomic		NC_000002.12:g.427 96927_42796928ins3 03	GRCh38 (hg38)		NC_000002.12	Chr2	42,796,927	42,796,927
nssv16911606	Remapped	Perfect	NC_000002.11:g.430 24067_43024068ins3 03	GRCh37.p13	First Pass	NC_000002.11	Chr2	43,024,067	43,024,067

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)
nssv16911606	0.779	4593	5898

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