A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17493165



Internal ID22551094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48981234..48982775hg38UCSC Ensembl
chr3:49018667..49020208hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381542
hg191542
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5836599
Supporting Variants
Samples
Known GenesARIH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17493165
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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