A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044138



Internal ID18786669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55360325..55387430hg38UCSC Ensembl
Innerchr12:55754109..55781214hg19UCSC Ensembl
Innerchr12:54040376..54067481hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3827106
hg1927106
hg1827106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523597
Samples
Known GenesOR6C75
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044138
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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