A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548172



Internal ID15211246
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 Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471400
Supporting Variants
SamplesJDW
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)nssv548172
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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