A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547816



Internal ID15558015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21111386..21441434hg38UCSC Ensembl
Outerchr22:21465675..21795723hg19UCSC Ensembl
Outerchr22:19795675..20125723hg18UCSC Ensembl
Outerchr22:19790229..20120277hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38330049
hg19330049
hg18330049
hg17330049
Variant TypeCNV gain
Copy Number11
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471490
Supporting Variants
SamplesJDW
Known GenesBCRP2, FAM230B, HIC2, POM121L8P, RIMBP3B, RIMBP3C
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsHIC2
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547816
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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