A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144523



Internal ID343728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58170350..58171343hg38UCSC Ensembl
chr18:55837582..55838575hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718505
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144523
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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