A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050189



Internal ID21182238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82897845..82897845hg38UCSC Ensembl
chr6:83607564..83607564hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034966
SamplesNA12878
Known GenesUBE3D
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)nsv3050189
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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