A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593248



Internal ID16033971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086603..1087519hg38UCSC Ensembl
Innerchr4:1080391..1081307hg19UCSC Ensembl
Innerchr4:1070391..1071307hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38917
hg19917
hg18917
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8883n54
Supporting Variantsnssv987550, nssv987551, nssv987552, nssv987534, nssv987540, nssv987527, nssv987549, nssv987546, nssv987555, nssv987531, nssv987537, nssv987558, nssv987548, nssv987545, nssv987560, nssv987530, nssv987557, nssv987535, nssv987533, nssv987559, nssv987547, nssv987541, nssv987528, nssv987542, nssv987538, nssv987556, nssv987543, nssv987553, nssv987539, nssv987529, nssv987554, nssv987536, nssv987532, nssv987544
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593248
Frequency
Sample Size17421
Observed Gain32
Observed Loss2
Observed Complex0
Frequencyn/a


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