A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020531



Internal ID21171417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44817901..44817901hg38UCSC Ensembl
chr21:46237816..46237816hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045028
Supporting Variants
SamplesNA12878
Known GenesSUMO3
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)nssv14020531
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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