A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3066714



Internal ID21198089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28684946..28684946hg38UCSC Ensembl
chr8:28542463..28542463hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036397
SamplesCHM1
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)nsv3066714
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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