A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144908



Internal ID18902559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:33556221..33556554hg38UCSC Ensembl
Outerchr2:33781288..33781621hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1885n106
Supporting Variantsnssv3981512
SamplesKWS1
Known GenesRASGRP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144908
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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