A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062009



Internal ID21193614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93768985..93769042hg38UCSC Ensembl
chr14:94235331..94235388hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030366
SamplesCHM1
Known GenesPRIMA1
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)nsv3062009
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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