A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699764



Internal ID21726085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67386000..67386000hg38UCSC Ensembl
chr17:65382116..65382116hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228413, nssv17199971
Samples
Known GenesPITPNC1
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)nsv5699764
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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