A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710961



Internal ID21737282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69050752..69050752hg38UCSC Ensembl
chr17:67046893..67046893hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225624, nssv17199990
Samples
Known GenesABCA9
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)nsv5710961
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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