A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056630



Internal ID21188514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43335405..43335405hg38UCSC Ensembl
chr11:43356955..43356955hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025911
SamplesNA12878
Known GenesAPI5
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)nsv3056630
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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