A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502070



Internal ID278947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116980866..116981050hg38UCSC Ensembl
chr10:118740377..118740561hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040715
Samples
Known GenesKIAA1598
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502070
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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