A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049085



Internal ID21181133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70519109..70519429hg38UCSC Ensembl
chr16:70553012..70553332hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026028
SamplesNA12878
Known GenesCOG4
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3049085
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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