A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440055



Internal ID218578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29789601..29794354hg38UCSC Ensembl
chr2:30012467..30017220hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg384754
hg194754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910678
Samples
Known GenesALK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440055
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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