A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035574



Internal ID18778105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65772966..65807585hg38UCSC Ensembl
Innerchr12:66166746..66201365hg19UCSC Ensembl
Innerchr12:64453013..64487632hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3834620
hg1934620
hg1834620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1521n100
Supporting Variantsnssv3524591
Samples
Known GenesRPSAP52
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035574
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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