A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412816



Internal ID22470686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81504276..81504343hg38UCSC Ensembl
chr3:81553427..81553494hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906221
Supporting Variants
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412816
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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