A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2798125



Internal ID21243463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58209259..58209259hg38UCSC Ensembl
chr18:55876491..55876491hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13689186, nssv13691881
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2798125
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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