A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375146



Internal ID22600815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58060920..58061003hg38UCSC Ensembl
chr18:55728152..55728235hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932216
Supporting Variants
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375146
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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