A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547864



Internal ID15211781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38046403..38306573hg38UCSC Ensembl
Outerchr17:33530002..33716058hg18UCSC Ensembl
Outerchr17:33530002..33716058hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38260171
hg18186057
hg17186057
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471507
Supporting Variants
SamplesYH
Known GenesLOC440434, MRPL45, TBC1D3, TBC1D3C, TBC1D3F
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
CommentsMRPL45
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547864
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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