A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978059



Internal ID19229525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:91927474..92010274hg38UCSC Ensembl
Outerchr2:92115500..92198300hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3882801
hg1982801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139720
Supporting Variants
SamplesKWS2
Known GenesACTR3BP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978059
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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