A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039903



Internal ID19129122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130357016..130381223hg38UCSC Ensembl
Innerchr12:130841561..130865768hg19UCSC Ensembl
Innerchr12:129407514..129431721hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824208
hg1924208
hg1824208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526196
Samples
Known GenesPIWIL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039903
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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