A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532171



Internal ID308099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39131479..39133874hg38UCSC Ensembl
chr17:37287732..37290127hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382396
hg192396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713015
Samples
Known GenesPLXDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532171
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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