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dbVar

Database of genomic structural variation

nsv4573475

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh37

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

Publication(s):gnomAD_Structural_Variants

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: 38 SVs from 4 studies. See in: genome view

Remapped(Score: Perfect):55,828,001-55,828,001

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4573475	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	55,828,001	55,828,001
nsv4573475	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000020.10	Chr20	54,403,057	54,403,057

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16033773	insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16033773	Remapped	Perfect	NC_000020.11:g.558 28001_55828002ins7 6	GRCh38.p12	First Pass	NC_000020.11	Chr20	55,828,001	55,828,001
nssv16033773	Submitted genomic		NC_000020.10:g.544 03057_54403058ins7 6	GRCh37.p13		NC_000020.10	Chr20	54,403,057	54,403,057

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)
nssv16033773	0.005	119	21666

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