A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2808701



Internal ID21254039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47316735..47316735hg38UCSC Ensembl
chr3:47358225..47358225hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13695265
Samples
Known GenesKLHL18
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2808701
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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