A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041155



Internal ID18783686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7502541..7669295hg38UCSC Ensembl
Innerchr12:7655137..7821891hg19UCSC Ensembl
Innerchr12:7546404..7713158hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38166755
hg19166755
hg18166755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1350n100
Supporting Variantsnssv3505061, nssv3503268
Samples
Known GenesAPOBEC1, CD163
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041155
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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