A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18100976



Internal ID20668016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52635553..52636758hg38UCSC Ensembl
chr3:52669569..52670774hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381206
hg191206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6370603
Supporting Variants
Samples
Known GenesPBRM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18100976
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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