A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468079



Internal ID245883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37515491..37603884hg38UCSC Ensembl
chr5:37515593..37603986hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3888394
hg1988394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964415
Samples
Known GenesWDR70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468079
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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