A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14037858



Internal ID21167848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8233082..8233082hg38UCSC Ensembl
chrUn_gl000220:131695..131695hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381092
hg191092
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048262
Supporting Variants
SamplesNA12878
Known Genes
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)nssv14037858
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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