A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057873



Internal ID21189679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80663074..80663074hg38UCSC Ensembl
chr16:80696971..80696971hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023111
SamplesNA12878
Known GenesCDYL2
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)nsv3057873
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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