A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18037544



Internal ID20604584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68491387..68496295hg38UCSC Ensembl
chr17:66487528..66492436hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg384909
hg194909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533751
Supporting Variants
Samples
Known GenesPRKAR1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18037544
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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