A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13703834



Internal ID21225646
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 StatusS
Merged Variantsnsv2813222
Supporting Variants
Samples
Known GenesPDE8B
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13703834
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.1875


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