A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2797179



Internal ID21242517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68496001..68496001hg38UCSC Ensembl
chr17:66492142..66492142hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13677203
Samples
Known GenesPRKAR1A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2797179
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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