A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564173



Internal ID16004896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30889171..30931476hg38UCSC Ensembl
Innerchr14:31358377..31400682hg19UCSC Ensembl
Innerchr14:30428128..30470433hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3842306
hg1942306
hg1842306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3605n54
Supporting Variantsnssv825138
Samples
Known GenesCOCH, LOC100506071, STRN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564173
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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