A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025643



Internal ID21160126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:67043928..67043928hg38UCSC Ensembl
chr10:68803686..68803686hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381536
hg191536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056880
Supporting Variants
SamplesCHM1
Known GenesCTNNA3, LRRTM3
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)nssv14025643
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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