A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523152



Internal ID15103759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5428946..5588893hg38UCSC Ensembl
Innerchr12:5538112..5698059hg19UCSC Ensembl
Innerchr12:5408373..5568320hg18UCSC Ensembl
Innerchr12:5408373..5568320hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38159948
hg19159948
hg18159948
hg17159948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698860
Samples
Known GenesANO2, NTF3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523152
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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