A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14023261



Internal ID21154859
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 StatusS
Merged Variantsnsv3061826
Supporting Variants
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)nssv14023261
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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