A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471506



Internal ID15211986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:56367511..56604187hg38UCSC Ensembl
Outerchr15:56659709..56896385hg19UCSC Ensembl
Outerchr15:54447001..54683677hg18UCSC Ensembl
Outerchr15:54447001..54683677hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38236677
hg19236677
hg18236677
hg17236677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10n31
Supporting Variantsnssv547861
SamplesNA18507
Known GenesMNS1, TEX9
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
CommentsMNS1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471506
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer