A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059022



Internal ID21190772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69611293..69611293hg38UCSC Ensembl
chr4:70477011..70477011hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031371
SamplesCHM1
Known GenesUGT2A1, UGT2A2
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)nsv3059022
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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