A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17097005



Internal ID21476010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42848544..42848544hg38UCSC Ensembl
chr17:41000561..41000561hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5658367
Supporting Variants
SamplesHG03486
Known GenesAOC2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17097005
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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