A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518107



Internal ID294503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1536580..1537234hg38UCSC Ensembl
chr17:1439874..1440528hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709961
Samples
Known GenesPITPNA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518107
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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