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dbVar

Database of genomic structural variation

nsv4320240

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:41,900

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: 73 SVs from 11 studies. See in: genome view

Remapped(Score: Perfect):45,346,796-45,388,695

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4320240	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	45,346,796	45,388,695
nsv4320240	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000002.11	Chr2	45,573,935	45,615,834

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16091147	inversion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16091147	Remapped	Perfect	NC_000002.12:g.453 46796_45388695inv	GRCh38.p12	First Pass	NC_000002.12	Chr2	45,346,796	45,388,695
nssv16091147	Submitted genomic		NC_000002.11:g.455 73935_45615834inv	GRCh37.p13		NC_000002.11	Chr2	45,573,935	45,615,834

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)
nssv16091147	4.6e-005	1	21694

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