A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048027



Internal ID19137246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133039108..133097005hg38UCSC Ensembl
Innerchr12:133615694..133673591hg19UCSC Ensembl
Innerchr12:132125767..132183664hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3857898
hg1957898
hg1857898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526391
Samples
Known GenesZNF140, ZNF84
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048027
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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