A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143617



Internal ID18937919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101782063..101783363hg38UCSC Ensembl
Outerchr14:102248400..102249700hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1137n106
Supporting Variantsnssv3981301
SamplesKWS1
Known GenesPPP2R5C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143617
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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