A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039176



Internal ID18781707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49284746..49438835hg38UCSC Ensembl
Innerchr12:49678529..49832618hg19UCSC Ensembl
Innerchr12:47964796..48118885hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38154090
hg19154090
hg18154090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1497n100
Supporting Variantsnssv3523529
Samples
Known GenesC1QL4, DNAJC22, LOC100335030, PRPH, SPATS2, TROAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039176
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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