A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022716



Internal ID21153652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52707348..52707460hg38UCSC Ensembl
chr13:53281483..53281595hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061538
Supporting Variants
SamplesCHM1
Known GenesLECT1
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)nssv14022716
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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