A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524513



Internal ID15451806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42492415..42501599hg38UCSC Ensembl
Innerchr12:42886217..42895401hg19UCSC Ensembl
Innerchr12:41172484..41181668hg18UCSC Ensembl
Innerchr12:41172484..41181668hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389185
hg199185
hg189185
hg179185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700457
Samples
Known GenesPRICKLE1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524513
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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