A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465653



Internal ID243512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86558465..86701047hg38UCSC Ensembl
chr4:87479618..87622200hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38142583
hg19142583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953207
Samples
Known GenesPTPN13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465653
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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