A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2818603



Internal ID21263941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73315244..73315244hg38UCSC Ensembl
chr8:74227479..74227479hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13697614
Samples
Known GenesRDH10
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2818603
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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