A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525871



Internal ID302019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8734324..8734421hg38UCSC Ensembl
chr17:8637642..8637739hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711285
Samples
Known GenesCCDC42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525871
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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