A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560468



Internal ID16001191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747352..121748102hg38UCSC Ensembl
Innerchr12:122185258..122186008hg19UCSC Ensembl
Innerchr12:120669641..120670391hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38751
hg19751
hg18751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2921n54
Supporting Variantsnssv803487, nssv803489, nssv803492, nssv803488, nssv803493, nssv803490, nssv803486, nssv803485, nssv803494, nssv803483, nssv803491, nssv803484
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560468
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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