A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051359



Internal ID21183410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112398042..112398380hg38UCSC Ensembl
chr10:114157800..114158138hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv196n140
Supporting Variantsnssv14022022
SamplesNA12878
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)nsv3051359
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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