A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14032522



Internal ID21164288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89325092..89325273hg38UCSC Ensembl
chr15:89868323..89868504hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3049055
Supporting Variants
SamplesNA12878
Known GenesPOLG
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)nssv14032522
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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