A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593246



Internal ID16033969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086603..1087362hg38UCSC Ensembl
Innerchr4:1080391..1081150hg19UCSC Ensembl
Innerchr4:1070391..1071150hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38760
hg19760
hg18760
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8884n54
Supporting Variantsnssv987518, nssv987517, nssv987520, nssv987516, nssv987519, nssv987522, nssv987521, nssv987515
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593246
Frequency
Sample Size17421
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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