A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981512



Internal ID18864756
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 StatusS
Merged Variantsnsv1144908
Supporting Variants
SamplesKWS1
Known GenesRASGRP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981512
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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