A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047500



Internal ID18790031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132666737..132763400hg38UCSC Ensembl
Innerchr12:133243323..133339986hg19UCSC Ensembl
Innerchr12:131753396..131850059hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3896664
hg1996664
hg1896664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712685
Samples
Known GenesANKLE2, PGAM5, POLE, PXMP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047500
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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