A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059427



Internal ID21191133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17709964..17709964hg38UCSC Ensembl
chr10:17751963..17751963hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021934
SamplesCHM1
Known GenesSTAM
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)nsv3059427
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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