A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14023040



Internal ID21154353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67731255..67731531hg38UCSC Ensembl
chr17:65727371..65727647hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3059291
Supporting Variants
SamplesCHM1
Known GenesNOL11
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)nssv14023040
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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