A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518514



Internal ID294901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6507044..6514286hg38UCSC Ensembl
chr17:6410364..6417606hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg387243
hg197243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711123
Samples
Known GenesPITPNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518514
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