A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518320



Internal ID294713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81609734..81610859hg38UCSC Ensembl
chr17:79576760..79577885hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715593
Samples
Known GenesNPLOC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518320
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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