A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118234



Internal ID19275453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:43907797..43908597hg38UCSC Ensembl
Outerchr12:44301600..44302400hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980905
SamplesKWS1
Known GenesTMEM117
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118234
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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