A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13685341



Internal ID21207202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48829674..48829674hg38UCSC Ensembl
chr3:48867107..48867107hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2808788
Supporting Variants
Samples
Known GenesPRKAR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13685341
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.453125


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