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dbVar

Database of genomic structural variation

nsv5541137

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:19

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: 93 SVs from 26 studies. See in: genome view

Submitted genomic47,718,932-47,718,950

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5541137	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	47,718,932	47,718,950
nsv5541137	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	48,222,189	48,222,207

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17723796	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17723796	Submitted genomic		NC_000019.10:g.477 18932_47718950ins7 1	GRCh38 (hg38)		NC_000019.10	Chr19	47,718,932	47,718,950
nssv17723796	Remapped	Perfect	NC_000019.9:g.4822 2189_48222207ins71	GRCh37.p13	First Pass	NC_000019.9	Chr19	48,222,189	48,222,207

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)
nssv17723796	<0.001	1	6404

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