A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17498775



Internal ID22556710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81405770..81407868hg38UCSC Ensembl
chr5:80701589..80703687hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382099
hg192099
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843188
Supporting Variants
Samples
Known GenesRNU5D-1, RNU5E-1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17498775
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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