A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110578



Internal ID18922748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:114322720..114334420hg38UCSC Ensembl
Outerchr9:117085000..117096700hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3811701
hg1911701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960232
SamplesKWS1
Known GenesAKNA, ORM1, ORM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110578
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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