A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045920



Internal ID21177966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69204023..69204023hg38UCSC Ensembl
chr5:68499850..68499850hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024306
SamplesNA12878
Known GenesCENPH
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)nsv3045920
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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