A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138882



Internal ID18929110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200774078..200774129hg38UCSC Ensembl
Outerchr2:201638801..201638852hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956369, nssv3973184
SamplesKWS1, KWS2
Known GenesAOX2P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138882
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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