A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3066685



Internal ID21198060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337069..109337069hg38UCSC Ensembl
chr8:110349298..110349298hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035372
SamplesCHM1
Known GenesENY2
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)nsv3066685
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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