A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069947



Internal ID19320104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55761187..55788788hg38UCSC Ensembl
chr16:55795099..55822700hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3827602
hg1927602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762178
SamplesKWP1
Known GenesCES1P1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069947
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer