A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13711334



Internal ID21233095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19479757..19479825hg38UCSC Ensembl
chr8:19337268..19337336hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2818465
Supporting Variants
Samples
Known GenesCSGALNACT1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13711334
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.796875


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