A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593238



Internal ID16033961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1084808..1087519hg38UCSC Ensembl
Innerchr4:1078596..1081307hg19UCSC Ensembl
Innerchr4:1068596..1071307hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382712
hg192712
hg182712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987455, nssv987451, nssv987452, nssv987453, nssv987454
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593238
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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