A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213230



Internal ID20780270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143191212..143193973hg38UCSC Ensembl
chr5:142570777..142573538hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382762
hg192762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403995
Supporting Variants
Samples
Known GenesARHGAP26
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213230
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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