A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057727



Internal ID21176462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64822376..64822376hg38UCSC Ensembl
chr14:65289094..65289094hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14015807
SamplesNA12878
Known GenesSPTB
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)nsv3057727
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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