A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523765



Internal ID15451058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74287219..74355696hg38UCSC Ensembl
Innerchr12:74680999..74749476hg19UCSC Ensembl
Innerchr12:72967266..73035743hg18UCSC Ensembl
Innerchr12:72967266..73035743hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3868478
hg1968478
hg1868478
hg1768478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699586
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523765
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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