A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564057



Internal ID16004780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24056425..24149650hg38UCSC Ensembl
Innerchr14:24525634..24618859hg19UCSC Ensembl
Innerchr14:23595474..23688699hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3893226
hg1993226
hg1893226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv824387
Samples
Known GenesCPNE6, DCAF11, EMC9, FITM1, LRRC16B, MIR7703, NRL, PCK2, PSME1, PSME2, RNF31
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564057
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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