A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14027446



Internal ID21155493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78599771..78599771hg38UCSC Ensembl
chr15:78892113..78892113hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3059676
Supporting Variants
SamplesCHM1
Known GenesCHRNA3
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)nssv14027446
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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