A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526877



Internal ID302991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20345111..20545111hg38UCSC Ensembl
chr17:20248424..20448424hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38200001
hg19200001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712071
Samples
Known GenesCCDC144CP, KRT16P3, LGALS9B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526877
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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