A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077830



Internal ID18971997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55806987..55830388hg38UCSC Ensembl
chr16:55840899..55864300hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3823402
hg1923402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768209
SamplesKWP1
Known GenesCES1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077830
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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