A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2816709



Internal ID21262047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:748143..748143hg38UCSC Ensembl
chr8:698143..698143hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13707638
Samples
Known GenesERICH1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2816709
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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