A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13700187



Internal ID21222021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78524001..78524001hg38UCSC Ensembl
chr8:79436236..79436236hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2818977
Supporting Variants
Samples
Known GenesPKIA
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13700187
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.1875


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