A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547847



Internal ID15558331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160604558..160648107hg38UCSC Ensembl
Outerchr6:161025590..161069139hg19UCSC Ensembl
Outerchr6:160945580..160989129hg18UCSC Ensembl
Outerchr6:160996001..161039550hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3843550
hg1943550
hg1843550
hg1743550
Variant TypeCNV gain
Copy Number26
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471501
Supporting Variants
SamplesYH
Known GenesLPA
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
CommentsLPA
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547847
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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