A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18127900



Internal ID20694940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144516813..144520158hg38UCSC Ensembl
chr5:143896376..143899721hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383346
hg193346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407543
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18127900
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00084


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