A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547870



Internal ID15211767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151577840..151609623hg38UCSC Ensembl
Outerchr2:152434354..152466137hg19UCSC Ensembl
Outerchr2:152142600..152174383hg18UCSC Ensembl
Outerchr2:152259862..152291645hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3831784
hg1931784
hg1831784
hg1731784
Variant TypeCNV gain
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471510
Supporting Variants
SamplesYH
Known GenesNEB
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
CommentsNEB
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547870
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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