A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708905



Internal ID21735226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70395155..70395155hg38UCSC Ensembl
chr12:70788935..70788935hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216981, nssv17192305
Samples
Known GenesKCNMB4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5708905
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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