A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046838



Internal ID21178884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:628518..628518hg38UCSC Ensembl
chr5:628633..628633hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019816
SamplesNA12878
Known GenesCEP72
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)nsv3046838
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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