A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547854



Internal ID15558038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64784421..64920147hg38UCSC Ensembl
Outerchr17:62780539..62916265hg19UCSC Ensembl
Outerchr17:60211001..60346727hg18UCSC Ensembl
Outerchr17:60211001..60346727hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38135727
hg19135727
hg18135727
hg17135727
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471504
Supporting Variants
SamplesJDW
Known GenesLRRC37A3, MIR4315-1, MIR4315-2, PLEKHM1P
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
CommentsLRRC37A3
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547854
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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