A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058650



Internal ID21190414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133291852..133292477hg38UCSC Ensembl
chr10:135105356..135105981hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031471
SamplesCHM1
Known GenesTUBGCP2
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)nsv3058650
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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