A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466920



Internal ID244747
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 StatusM
Merged Variants
Supporting Variantsnssv16981861
Samples
Known GenesPAQR8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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