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dbVar

Database of genomic structural variation

nsv5429218

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: 167 SVs from 34 studies. See in: genome view

Submitted genomic35,094,645-35,094,696

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5429218	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	35,094,645	35,094,696
nsv5429218	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	35,563,851	35,563,902

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17695536	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17695536	Submitted genomic		NC_000014.9:g.3509 4645_35094696ins27 8	GRCh38 (hg38)		NC_000014.9	Chr14	35,094,645	35,094,696
nssv17695536	Remapped	Perfect	NC_000014.8:g.3556 3851_35563902ins27 8	GRCh37.p13	First Pass	NC_000014.8	Chr14	35,563,851	35,563,902

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)
nssv17695536	0.01	61	6362

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