A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517338



Internal ID15444631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41260177..41268651hg38UCSC Ensembl
Innerchr12:41653979..41662453hg19UCSC Ensembl
Innerchr12:39940246..39948720hg18UCSC Ensembl
Innerchr12:39940246..39948720hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg388475
hg198475
hg188475
hg178475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv680995, nssv665285, nssv693146, nssv693429, nssv689868, nssv670091, nssv678213, nssv688519, nssv683776, nssv664450, nssv667059, nssv688701, nssv683302, nssv665989, nssv685868, nssv683666, nssv654282, nssv677522, nssv671907, nssv677668, nssv662923, nssv660268, nssv662268, nssv687661, nssv693595, nssv675577, nssv654948, nssv691369, nssv665923, nssv668227, nssv651772, nssv662712, nssv679316, nssv678167, nssv673250, nssv668127, nssv664363, nssv667791
Samples
Known GenesPDZRN4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517338
Frequency
Sample Size2026
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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