A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050720



Internal ID18793251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55313191..55326825hg38UCSC Ensembl
Innerchr12:55706975..55720609hg19UCSC Ensembl
Innerchr12:53993242..54006876hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3813635
hg1913635
hg1813635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523596
Samples
Known GenesOR6C1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050720
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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