A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378293



Internal ID21035846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37047457..37384377hg38UCSC Ensembl
chr5:37047559..37384479hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38336921
hg19336921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213424
Samples
Known GenesC5orf42, NIPBL, NUP155, WDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6378293
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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