A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv196n140



Internal ID22811133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112398042..112398381hg38UCSC Ensembl
chr10:114157800..114158139hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3065460, nsv3051359
SamplesCHM1, NA12878
Known GenesACSL5
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)dgv196n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer