A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547390



Internal ID321245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43031256..43031256hg38UCSC Ensembl
chr17:41183273..41183273hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724554
Samples
Known GenesRND2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547390
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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