A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440032



Internal ID218556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72679241..72687548hg38UCSC Ensembl
chr2:72906370..72914677hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg388308
hg198308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914722
Samples
Known GenesEXOC6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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