A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4016115



Internal ID22077746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181865856..181956923hg38UCSC Ensembl
Outerchr2:181860571..181970084hg38UCSC Ensembl
Innerchr2:182730583..182821650hg19UCSC Ensembl
Outerchr2:182725298..182834811hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38109514
hg19109514
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155889
Supporting Variants
Samples
Known GenesPPP1R1C, SSFA2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4016115
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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