A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530929



Internal ID306897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67639798..67649288hg38UCSC Ensembl
chr17:65635914..65645404hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg389491
hg199491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714174
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530929
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer