A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531623



Internal ID307578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58350327..58443934hg38UCSC Ensembl
chr18:56017559..56111166hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3893608
hg1993608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718519
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531623
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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