A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14028189



Internal ID21161392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58621957..58621957hg38UCSC Ensembl
chr10:60381717..60381717hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3054197
Supporting Variants
SamplesNA12878
Known GenesBICC1
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)nssv14028189
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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