A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18131514



Internal ID20698554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40778801..40786700hg38UCSC Ensembl
chr5:40778903..40786802hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387900
hg197900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6395194
Supporting Variants
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18131514
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00109


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