A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241786



Internal ID21689295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48510464..48510464hg38UCSC Ensembl
chr10:49718507..49718507hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726897
Supporting Variants
Samples
Known GenesARHGAP22
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17241786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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