A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541147



Internal ID315789
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 StatusM
Merged Variants
Supporting Variantsnssv17007835
Samples
Known GenesPTPRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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