A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044735



Internal ID19133954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130295681..130367666hg38UCSC Ensembl
Innerchr12:130780226..130852211hg19UCSC Ensembl
Innerchr12:129346179..129418164hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3871986
hg1971986
hg1871986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526195
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)nsv1044735
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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