A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513925



Internal ID290432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38949893..39066919hg38UCSC Ensembl
chr20:37578536..37695562hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38117027
hg19117027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732337
Samples
Known GenesDHX35, FAM83D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513925
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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