A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522388



Internal ID15449681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42492415..42496289hg38UCSC Ensembl
Innerchr12:42886217..42890091hg19UCSC Ensembl
Innerchr12:41172484..41176358hg18UCSC Ensembl
Innerchr12:41172484..41176358hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383875
hg193875
hg183875
hg173875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695168
Samples
Known GenesPRICKLE1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522388
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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