A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038935



Internal ID18781466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:107314243..108077556hg38UCSC Ensembl
Innerchr12:107708020..108471333hg19UCSC Ensembl
Innerchr12:106232150..106995463hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38763314
hg19763314
hg18763314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524877
Samples
Known GenesASCL4, BTBD11, LOC728739, PRDM4, PWP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038935
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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