A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125306



Internal ID20692346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137746321..137749511hg38UCSC Ensembl
chr5:137082010..137085200hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg383191
hg193191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415242
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125306
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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