A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929893



Internal ID22705152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58205794..58205884hg38UCSC Ensembl
chr18:55873026..55873116hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387738
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929893
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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