A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3956369



Internal ID18867672
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 StatusS
Merged Variantsnsv1138882
Supporting Variants
SamplesKWS1
Known GenesAOX2P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3956369
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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