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dbVar

Database of genomic structural variation

nsv5418720

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: 215 SVs from 18 studies. See in: genome view

Submitted genomic59,152,232-59,152,232

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5418720	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	59,152,232	59,152,232
nsv5418720	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	56,819,464	56,819,464

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17718558	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17718558	Submitted genomic		NC_000018.10:g.591 52232_59152233ins3 11	GRCh38 (hg38)		NC_000018.10	Chr18	59,152,232	59,152,232
nssv17718558	Remapped	Perfect	NC_000018.9:g.5681 9464_56819465ins31 1	GRCh37.p13	First Pass	NC_000018.9	Chr18	56,819,464	56,819,464

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)
nssv17718558	0.079	488	6142

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