A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471519



Internal ID15558685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202418772..202447361hg38UCSC Ensembl
Outerchr2:203283495..203312084hg19UCSC Ensembl
Outerchr2:202991740..203020329hg18UCSC Ensembl
Outerchr2:203109001..203137590hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3828590
hg1928590
hg1828590
hg1728590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547912, nssv547900
SamplesNA18507, JDW
Known GenesBMPR2
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
CommentsBMPR2
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471519
Frequency
Sample Size3
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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