A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139148



Internal ID338332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26573398..26573459hg38UCSC Ensembl
chr2:26796266..26796327hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911037
Samples
Known GenesC2orf70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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