A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516007



Internal ID15096614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37925564..37925676hg38UCSC Ensembl
Innerchr2:38152707..38152819hg19UCSC Ensembl
Innerchr2:38006211..38006323hg18UCSC Ensembl
Innerchr2:38064358..38064470hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38113
hg19113
hg18113
hg17113
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676867, nssv656892, nssv665869, nssv688469, nssv652408, nssv672989, nssv681598, nssv671057, nssv656056, nssv683168, nssv667947, nssv659430, nssv666259, nssv682134, nssv692428, nssv667289, nssv657004, nssv682328, nssv676750, nssv669937, nssv670965, nssv677733, nssv698668, nssv688912, nssv655404, nssv682493, nssv673406, nssv673345, nssv652177, nssv666759, nssv678600, nssv656784, nssv693881, nssv661959, nssv655691, nssv655002, nssv670653, nssv664383, nssv672767, nssv694013, nssv687108, nssv658977, nssv655365, nssv693638, nssv658350, nssv651823, nssv691874, nssv680839, nssv673829, nssv691984, nssv674752, nssv674093, nssv679501, nssv674166, nssv674235, nssv686812, nssv663285, nssv686680, nssv663001, nssv652936, nssv661843, nssv685536, nssv674683, nssv690289, nssv662410, nssv675603, nssv682705, nssv669970, nssv674851, nssv664143, nssv687027, nssv657187, nssv669805, nssv669434, nssv670783, nssv675702, nssv669155, nssv672181, nssv654700, nssv673710, nssv692894, nssv691080, nssv679338, nssv664431, nssv676360, nssv692246, nssv658383, nssv672242, nssv659269
Samples
Known GenesRMDN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516007
Frequency
Sample Size2026
Observed Gain1
Observed Loss88
Observed Complex0
Frequencyn/a


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