A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478745



Internal ID256291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96932669..96984964hg38UCSC Ensembl
chr9:99694951..99747246hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3852296
hg1952296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027518
Samples
Known GenesHIATL2, NUTM2G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478745
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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