A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132386



Internal ID18926001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105051363..105052063hg38UCSC Ensembl
Outerchr14:105517700..105518400hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987161
SamplesKWS1
Known GenesGPR132
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132386
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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