A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056914



Internal ID21188782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59645352..59645352hg38UCSC Ensembl
chr11:59412825..59412825hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021786
SamplesNA12878
Known GenesPATL1
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)nsv3056914
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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