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dbVar

Database of genomic structural variation

nsv5552124

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:51

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: 79 SVs from 17 studies. See in: genome view

Submitted genomic32,284,200-32,284,250

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5552124	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	32,284,200	32,284,250
nsv5552124	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	32,749,801	32,749,851

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16903609	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16903609	Submitted genomic		NC_000001.11:g.322 84200_32284250ins5 4	GRCh38 (hg38)		NC_000001.11	Chr1	32,284,200	32,284,250
nssv16903609	Remapped	Perfect	NC_000001.10:g.327 49801_32749851ins5 4	GRCh37.p13	First Pass	NC_000001.10	Chr1	32,749,801	32,749,851

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)
nssv16903609	<0.001	3	6404

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