A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6407385



Internal ID21064938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129941178..130050369hg38UCSC Ensembl
chr5:129276871..129386062hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38109192
hg19109192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18126183
Samples
Known GenesCHSY3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6407385
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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