A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061826



Internal ID21193449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218082965..218082965hg38UCSC Ensembl
chr2:218947688..218947688hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023261
SamplesCHM1
Known GenesRUFY4
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)nsv3061826
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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