A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445053



Internal ID223412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70761476..70765226hg38UCSC Ensembl
chr2:70988608..70992358hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383751
hg193751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915411
Samples
Known GenesADD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445053
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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