A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062599



Internal ID21194150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:90884779..90884779hg38UCSC Ensembl
chr9:93647061..93647061hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017809
SamplesCHM1
Known GenesSYK
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)nsv3062599
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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