A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528910



Internal ID304949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58076919..58077220hg38UCSC Ensembl
chr18:55744151..55744452hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718500
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528910
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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