A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076839



Internal ID18969490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47666116..47666165hg38UCSC Ensembl
Outerchr20:46294860..46294909hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768853
SamplesKWP1
Known GenesSULF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076839
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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