A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6413859



Internal ID21071412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127053456..127057389hg38UCSC Ensembl
chr5:126389148..126393081hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383934
hg193934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213191
Samples
Known GenesC5orf63
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6413859
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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