A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14037569



Internal ID21167668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388128..56388128hg38UCSC Ensembl
chr20:54963184..54963184hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048170
Supporting Variants
SamplesNA12878
Known GenesAURKA
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)nssv14037569
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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