A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560464



Internal ID16001187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747352..121747874hg38UCSC Ensembl
Innerchr12:122185258..122185780hg19UCSC Ensembl
Innerchr12:120669641..120670163hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38523
hg19523
hg18523
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803447, nssv803451, nssv803457, nssv803442, nssv803450, nssv803440, nssv803452, nssv803454, nssv803449, nssv803441, nssv803443, nssv803448, nssv803445, nssv803453, nssv803455, nssv803456, nssv803444, nssv803446
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560464
Frequency
Sample Size17421
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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