A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471400



Internal ID15211880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41582281..41586895hg38UCSC Ensembl
Outerchr17:39738533..39743147hg19UCSC Ensembl
Outerchr17:36992059..36996673hg18UCSC Ensembl
Outerchr17:36992059..36996673hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384615
hg194615
hg184615
hg174615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548173, nssv548172
SamplesYH, JDW
Known GenesKRT14
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsKRT14
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471400
Frequency
Sample Size3
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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