A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139301



Internal ID338486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27066021..27066674hg38UCSC Ensembl
chr2:27288889..27289542hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910639
Samples
Known GenesAGBL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139301
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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