A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140048



Internal ID339240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46546467..46546519hg38UCSC Ensembl
chr2:46773606..46773658hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913651
Samples
Known GenesRHOQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140048
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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