A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3512870



Internal ID18464465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11501836..12890185hg38UCSC Ensembl
Innerchr12:11654770..13043119hg19UCSC Ensembl
Innerchr12:11546037..12934386hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381388350
hg191388350
hg181388350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046355
Supporting Variants
Samples
Known GenesAPOLD1, BCL2L14, CDKN1B, CREBL2, DDX47, DUSP16, ETV6, GPR19, LOC338817, LOH12CR1, LOH12CR2, LRP6, MANSC1, MIR1244-1, MIR1244-2, MIR1244-3, MIR613, RNU6-19P, RPL13AP20
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3512870
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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