A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521872



Internal ID15102479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27114021..27635541hg38UCSC Ensembl
Innerchr12:27266954..27788474hg19UCSC Ensembl
Innerchr12:27158221..27679741hg18UCSC Ensembl
Innerchr12:27158221..27679741hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38521521
hg19521521
hg18521521
hg17521521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694644
Samples
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521872
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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