A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944922



Internal ID22720394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58374903..58378363hg38UCSC Ensembl
chr18:56042135..56045595hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg383461
hg193461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376185
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944922
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer