A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547932



Internal ID15211331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102473939..102777602hg38UCSC Ensembl
Outerchr7:102114386..102418049hg19UCSC Ensembl
Outerchr7:101901391..102205285hg18UCSC Ensembl
Outerchr7:101708106..102012000hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38303664
hg19303664
hg18303895
hg17303895
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471534
Supporting Variants
SamplesJDW
Known GenesFAM185A, POLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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
CommentsPOLR2J
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547932
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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