A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769690



Internal ID19311122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47904660..47906961hg38UCSC Ensembl
chr2:48131799..48134100hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072940
Supporting Variants
SamplesKWP1
Known GenesFBXO11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769690
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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