A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519174



Internal ID15446467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47966201..47971482hg38UCSC Ensembl
Innerchr12:48359984..48365265hg19UCSC Ensembl
Innerchr12:46646251..46651532hg18UCSC Ensembl
Innerchr12:46646251..46651532hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg385282
hg195282
hg185282
hg175282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696657
Samples
Known GenesTMEM106C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519174
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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