A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525636



Internal ID301788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14380767..14402615hg38UCSC Ensembl
chr21:15753088..15774936hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3821849
hg1921849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734059
Samples
Known GenesHSPA13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525636
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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