A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065279



Internal ID21196715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34528008..34528341hg38UCSC Ensembl
chr20:33115813..33116146hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv831n140
Supporting Variantsnssv14036493
SamplesCHM1
Known GenesDYNLRB1
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)nsv3065279
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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