A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv581n140



Internal ID22811518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67731241..67731531hg38UCSC Ensembl
chr17:65727357..65727647hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3059291, nsv3052614
SamplesCHM1, NA12878
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)dgv581n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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