A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467479



Internal ID245291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151532418..151533401hg38UCSC Ensembl
chr5:150911979..150912962hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975773
Samples
Known GenesFAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467479
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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