A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17471376



Internal ID22529267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58374960..58378059hg38UCSC Ensembl
chr18:56042192..56045291hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874386
Supporting Variants
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17471376
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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