A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007598



Internal ID22069229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:16848228..16854442hg38UCSC Ensembl
Outerchr2:16845507..16856053hg38UCSC Ensembl
Innerchr2:17029495..17035709hg19UCSC Ensembl
Outerchr2:17026774..17037320hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3810547
hg1910547
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155191
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007598
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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