A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700813



Internal ID21727134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59441738..59441738hg38UCSC Ensembl
chr18:57108970..57108970hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220091, nssv17199660
Samples
Known GenesCCBE1
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)nsv5700813
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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