A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046355



Internal ID18788886
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 StatusM
Merged Variants
Supporting Variantsnssv3512870
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)nsv1046355
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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