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dbVar

Database of genomic structural variation

nsv5430353

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:98

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: 348 SVs from 27 studies. See in: genome view

Submitted genomic803,812-803,909

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5430353	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	803,812	803,909
nsv5430353	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	803,813	803,910

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17715171	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17715171	Submitted genomic		NC_000018.10:g.803 812_803909ins279	GRCh38 (hg38)		NC_000018.10	Chr18	803,812	803,909
nssv17715171	Remapped	Perfect	NC_000018.9:g.8038 13_803910ins279	GRCh37.p13	First Pass	NC_000018.9	Chr18	803,813	803,910

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)
nssv17715171	<0.001	1	6404

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