A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488017



Internal ID265339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69238368..69238678hg38UCSC Ensembl
chr10:70998124..70998434hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035106
Samples
Known GenesHKDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488017
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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