A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556053



Internal ID329198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67613575..67613626hg38UCSC Ensembl
chr17:65609691..65609742hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714171
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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