A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2817198



Internal ID21262536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138692271..138692271hg38UCSC Ensembl
chr8:139704514..139704514hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13697933, nssv13706904
Samples
Known GenesCOL22A1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2817198
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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