A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038057



Internal ID18780588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65781076..65810281hg38UCSC Ensembl
Innerchr12:66174856..66204061hg19UCSC Ensembl
Innerchr12:64461123..64490328hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3829206
hg1929206
hg1829206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1521n100
Supporting Variantsnssv3524592, nssv3524593
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)nsv1038057
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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