A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042315



Internal ID18784846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20378707..20476932hg38UCSC Ensembl
Innerchr12:20531641..20629866hg19UCSC Ensembl
Innerchr12:20422908..20521133hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3898226
hg1998226
hg1898226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3506579
Samples
Known GenesPDE3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042315
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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