A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593241



Internal ID16033964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086569..1087519hg38UCSC Ensembl
Innerchr4:1080357..1081307hg19UCSC Ensembl
Innerchr4:1070357..1071307hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38951
hg19951
hg18951
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8883n54
Supporting Variantsnssv987481, nssv987479, nssv987488, nssv987497, nssv987469, nssv987501, nssv987482, nssv987484, nssv987475, nssv987485, nssv987477, nssv987466, nssv987496, nssv987470, nssv987499, nssv987494, nssv987492, nssv987467, nssv987483, nssv987498, nssv987471, nssv987468, nssv987480, nssv987472, nssv987464, nssv987489, nssv987493, nssv987486, nssv987465, nssv987495, nssv987476, nssv987490, nssv987491, nssv987487, nssv987474, nssv987478, nssv987500, nssv987473
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593241
Frequency
Sample Size17421
Observed Gain36
Observed Loss2
Observed Complex0
Frequencyn/a


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