A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981861



Internal ID55259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52355018..52366981hg38UCSC Ensembl
chr6:52219816..52231779hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3811964
hg1911964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466920
Supporting Variants
Samples
Known GenesPAQR8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981861
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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