A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064519



Internal ID21196006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108215440..108215440hg38UCSC Ensembl
chr13:108867788..108867788hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033882
SamplesNA12878
Known GenesLIG4
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)nsv3064519
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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