A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383493



Internal ID22441363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42848525..42848525hg38UCSC Ensembl
chr17:41000542..41000542hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5978267
Supporting Variants
Samples
Known GenesAOC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383493
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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