A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560475



Internal ID16001198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747403..121748051hg38UCSC Ensembl
Innerchr12:122185309..122185957hg19UCSC Ensembl
Innerchr12:120669692..120670340hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38649
hg19649
hg18649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2921n54
Supporting Variantsnssv803604, nssv803602, nssv803603, nssv803605, nssv803601
Samples
Known GenesTMEM120B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560475
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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