A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048262



Internal ID21180309
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 StatusM
Merged Variants
Supporting Variantsnssv14037858
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)nsv3048262
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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