A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471867



Internal ID249594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51938313..51944070hg38UCSC Ensembl
chr6:51803111..51808868hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg385758
hg195758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983292
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471867
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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