A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037951



Internal ID18780482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132841203..132933486hg38UCSC Ensembl
Innerchr12:133417789..133510072hg19UCSC Ensembl
Innerchr12:131927862..132020145hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3892284
hg1992284
hg1892284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1589n100
Supporting Variantsnssv3526382
Samples
Known GenesCHFR, ZNF605
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037951
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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