A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6401942



Internal ID21059495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103155327..103274221hg38UCSC Ensembl
chr5:102491031..102609922hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38118895
hg19118892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212606
Samples
Known GenesC5orf30, PPIP5K2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6401942
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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