A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526076



Internal ID15106683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66147526..66152320hg38UCSC Ensembl
Innerchr12:66541306..66546100hg19UCSC Ensembl
Innerchr12:64827573..64832367hg18UCSC Ensembl
Innerchr12:64827573..64832367hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384795
hg194795
hg184795
hg174795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702317
Samples
Known GenesTMBIM4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526076
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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