A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6386853



Internal ID21044406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36885231..37337537hg38UCSC Ensembl
chr5:36885333..37337639hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38452307
hg19452307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213422
Samples
Known GenesC5orf42, NIPBL, NUP155
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6386853
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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