A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485998



Internal ID263376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45695265..45907265hg38UCSC Ensembl
chr10:46190713..46402713hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38212001
hg19212001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033558
Samples
Known GenesAGAP4, FAM21C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485998
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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