A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18041478



Internal ID20608518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51469890..51480149hg38UCSC Ensembl
chr18:48996260..49006519hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3810260
hg1910260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519717
Supporting Variants
Samples
Known GenesLOC100287225
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18041478
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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