A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730173



Internal ID21756494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32087486..32087486hg38UCSC Ensembl
chr14:32556692..32556692hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236607
Samples
Known GenesARHGAP5
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)nsv5730173
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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