A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812251



Internal ID21257589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178294220..178294457hg38UCSC Ensembl
chr5:177721221..177721458hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13709158
Samples
Known GenesCOL23A1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812251
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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