A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050161



Internal ID19139380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9284039..9533172hg38UCSC Ensembl
Innerchr12:9436635..9685768hg19UCSC Ensembl
Innerchr12:9327902..9577035hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38249134
hg19249134
hg18249134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519441
Samples
Known GenesDDX12P, LOC642846
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050161
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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