A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052327



Internal ID19141546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:78191339..78227824hg38UCSC Ensembl
Innerchr12:78585119..78621604hg19UCSC Ensembl
Innerchr12:77109250..77145735hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3836486
hg1936486
hg1836486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712554
Samples
Known GenesNAV3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052327
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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