A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529953



Internal ID305952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4717777..4717828hg38UCSC Ensembl
chr17:4621072..4621123hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710999
Samples
Known GenesARRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529953
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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