A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060116



Internal ID21191806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138143649..138143759hg38UCSC Ensembl
chr5:137479338..137479448hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028049
SamplesCHM1
Known GenesBRD8
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)nsv3060116
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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