A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400235



Internal ID21057788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130925316..131352346hg38UCSC Ensembl
chr5:130261009..130688039hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38427031
hg19427031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215833
Samples
Known GenesCDC42SE2, HINT1, LYRM7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400235
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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