A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466158



Internal ID244005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57046500..57092000hg38UCSC Ensembl
chr6:56911298..56956798hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3845501
hg1945501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983372
Samples
Known GenesKIAA1586, ZNF451
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466158
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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