A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007835



Internal ID72848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157547981..157547999hg38UCSC Ensembl
chr7:157340675..157340693hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541147
Supporting Variants
Samples
Known GenesPTPRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007835
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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