A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18165471



Internal ID20732511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143358718..143389691hg38UCSC Ensembl
chr8:144440888..144471861hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3830974
hg1930974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419786
Supporting Variants
Samples
Known GenesRHPN1, RHPN1-AS1, TOP1MT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18165471
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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