A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769955



Internal ID18967273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111405695..111406296hg38UCSC Ensembl
chr12:111843499..111844100hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071054
Supporting Variants
SamplesKWP1
Known GenesSH2B3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769955
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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