A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040534



Internal ID19129753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106134616..106225397hg38UCSC Ensembl
Innerchr12:106528394..106619175hg19UCSC Ensembl
Innerchr12:105052524..105143305hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3890782
hg1990782
hg1890782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524876
Samples
Known GenesNUAK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040534
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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