A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488719



Internal ID266018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:74919755..74919826hg38UCSC Ensembl
chr10:76679513..76679584hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037077
Samples
Known GenesKAT6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488719
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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