A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2813222



Internal ID21258560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77420371..77420371hg38UCSC Ensembl
chr5:76716196..76716196hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13703834
Samples
Known GenesPDE8B
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2813222
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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