A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2818977



Internal ID21264316
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 StatusM
Merged Variants
Supporting Variantsnssv13700187
Samples
Known GenesPKIA
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2818977
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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