A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819182



Internal ID15583883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14434195..14542395hg38UCSC Ensembl
Outerchr18:14434194..14542394hg19UCSC Ensembl
Outerchr18:14424194..14532394hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38108201
hg19108201
hg18108201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418918
SamplesAK1
Known GenesCXADRP3, POTEC
MethodSequencing
AnalysisInsertions in AK1 genome were identified by BAC end sequencing and confirmed by whole genome GA sequencing.
PlatformGPL10329
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819182
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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