A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065593



Internal ID21197025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128452908..128459021hg38UCSC Ensembl
chr8:129465154..129471267hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386114
hg196114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1507n140
Supporting Variantsnssv14037211
SamplesCHM1
Known Genes
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)nsv3065593
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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