A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966731



Internal ID18885241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121750394..121751794hg38UCSC Ensembl
Outerchr12:122188300..122189700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112621
Supporting Variants
SamplesKWS2
Known GenesTMEM120B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966731
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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