A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056624



Internal ID21188508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36055105..36055105hg38UCSC Ensembl
chr11:36076655..36076655hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021104
SamplesNA12878
Known GenesLDLRAD3
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)nsv3056624
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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