A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467272



Internal ID245091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81358576..81395804hg38UCSC Ensembl
chr5:80654395..80691623hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3837229
hg1937229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968539
Samples
Known GenesACOT12, RNU5D-1, RNU5E-1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467272
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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