A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046831



Internal ID19136050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19332423..19420716hg38UCSC Ensembl
Innerchr12:19485357..19573650hg19UCSC Ensembl
Innerchr12:19376624..19464917hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3888294
hg1988294
hg1888294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3518226, nssv3503417
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046831
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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