A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv547983



Internal ID15558149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36357297..36459260hg38UCSC Ensembl
Outerchr17:34725889..34815074hg19UCSC Ensembl
Outerchr17:31800002..31889187hg18UCSC Ensembl
Outerchr17:31800002..31889187hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38101964
hg1989186
hg1889186
hg1789186
Variant TypeCNV gain
Copy Number29
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471328
Supporting Variants
SamplesNA18507
Known GenesTBC1D3G, TBC1D3H
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
CommentsTBC1D3C
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv547983
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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