A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963770



Internal ID43156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:22125602..22627015hg38UCSC Ensembl
chr5:22125711..22627124hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38501414
hg19501414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459844
Supporting Variants
Samples
Known GenesCDH12, PMCHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963770
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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