A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143576



Internal ID18925066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121750394..121751694hg38UCSC Ensembl
Outerchr12:122188300..122189600hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv882n106
Supporting Variantsnssv3980787
SamplesKWS1
Known GenesTMEM120B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143576
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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