A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124649



Internal ID18932738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114548878..114554178hg38UCSC Ensembl
Outerchr11:114419600..114424900hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv725n106
Supporting Variantsnssv3976704
SamplesKWS2
Known GenesNXPE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124649
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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