A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522581



Internal ID298845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47172221..47172329hg38UCSC Ensembl
chr18:44698592..44698700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717942
Samples
Known GenesIER3IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522581
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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