A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007827



Internal ID72845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157524336..157543510hg38UCSC Ensembl
chr7:157317030..157336204hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3819175
hg1919175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480282
Supporting Variants
Samples
Known GenesPTPRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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