A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130683



Internal ID18902011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93357836..93357945hg38UCSC Ensembl
Outerchr14:93824182..93824291hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967000
SamplesKWS2
Known GenesUNC79
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130683
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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