A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559543



Internal ID16346952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82714616..82809963hg38UCSC Ensembl
Innerchr12:83108395..83203742hg19UCSC Ensembl
Innerchr12:81632526..81727873hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3895348
hg1995348
hg1895348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176315
Samples1798860071_A
Known GenesTMTC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559543
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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