A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17493240



Internal ID22551169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52596184..52597608hg38UCSC Ensembl
chr3:52630200..52631624hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381425
hg191425
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5836614
Supporting Variants
Samples
Known GenesPBRM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17493240
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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