A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv535n140



Internal ID22811472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31316041..31316238hg38UCSC Ensembl
chr16:31327362..31327559hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3060558, nsv3047908
SamplesCHM1, NA12878
Known GenesITGAM
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)dgv535n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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