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dbVar

Database of genomic structural variation

nsv6288984

Organism: Homo sapiens

Study:nstd214 (Naslavsky et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):Naslavsky 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: 156 SVs from 15 studies. See in: genome view

Submitted genomic26,867,232-26,867,232

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6288984	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	26,867,232	26,867,232
nsv6288984	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	24,447,196	24,447,196

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17934682	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17934682	Submitted genomic		NC_000018.10:g.268 67232_26867233ins8 0	GRCh38 (hg38)		NC_000018.10	Chr18	26,867,232	26,867,232
nssv17934682	Remapped	Perfect	NC_000018.9:g.2444 7196_24447197ins80	GRCh37.p13	First Pass	NC_000018.9	Chr18	24,447,196	24,447,196

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)
nssv17934682	<0.001	1	2342

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