A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522101



Internal ID298374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58077991..58078064hg38UCSC Ensembl
chr18:55745223..55745296hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718501
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522101
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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