A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125130



Internal ID20692170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131598787..131599995hg38UCSC Ensembl
chr5:130934480..130935688hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408935
Supporting Variants
Samples
Known GenesRAPGEF6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125130
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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