A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046823



Internal ID21178869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43541214..43541214hg38UCSC Ensembl
chr5:43541316..43541316hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019234
SamplesNA12878
Known GenesPAIP1
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)nsv3046823
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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