A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045020



Internal ID21176817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41249294..41249294hg38UCSC Ensembl
chr21:42621221..42621221hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021831
SamplesNA12878
Known GenesBACE2
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)nsv3045020
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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