A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471514



Internal ID15211994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46565979..46701341hg38UCSC Ensembl
Outerchr17:44643345..44778707hg19UCSC Ensembl
Outerchr17:41998661..42133889hg18UCSC Ensembl
Outerchr17:41998661..42133889hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38135363
hg19135363
hg18135229
hg17135229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547877, nssv547876
SamplesJDW, YH
Known GenesARL17A, ARL17B, NSF, NSFP1
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
CommentsNSF
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471514
Frequency
Sample Size3
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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