A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440227



Internal ID218743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138894496..138900391hg38UCSC Ensembl
chr2:139652066..139657961hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385896
hg195896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924330
Samples
Known GenesYY1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440227
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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