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dbVar

Database of genomic structural variation

nsv4573293

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: 111 SVs from 9 studies. See in: genome view

Remapped(Score: Perfect):20,742,467-20,742,467

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4573293	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	20,742,467	20,742,467
nsv4573293	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000021.8	Chr21	22,114,785	22,114,785

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16032576	insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16032576	Remapped	Perfect	NC_000021.9:g.2074 2467_20742468ins73	GRCh38.p12	First Pass	NC_000021.9	Chr21	20,742,467	20,742,467
nssv16032576	Submitted genomic		NC_000021.8:g.2211 4785_22114786ins73	GRCh37.p13		NC_000021.8	Chr21	22,114,785	22,114,785

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)
nssv16032576	0.013	276	21572

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