A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509955



Internal ID286589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52486000..52578253hg38UCSC Ensembl
chr13:53060135..53152388hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3892254
hg1992254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv130n206
Supporting Variantsnssv17687810
Samples
Known GenesTPTE2P3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509955
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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