A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983293



Internal ID56241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51944018..51944068hg38UCSC Ensembl
chr6:51808816..51808866hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552955
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983293
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003434


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