A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13709158



Internal ID21230938
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 StatusS
Merged Variantsnsv2812251
Supporting Variants
Samples
Known GenesCOL23A1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13709158
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.6


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