A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543653



Internal ID317885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23918268..23918305hg38UCSC Ensembl
chr10:24207197..24207234hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033794
Samples
Known GenesKIAA1217
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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