A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459192



Internal ID237209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49807548..49838585hg38UCSC Ensembl
chr6:49775261..49806298hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3831038
hg1931038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983274
Samples
Known GenesCRISP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459192
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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