A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052614



Internal ID21184648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67731241..67731517hg38UCSC Ensembl
chr17:65727357..65727633hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv581n140
Supporting Variantsnssv14021609
SamplesNA12878
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)nsv3052614
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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