A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441735



Internal ID220189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31358304..31364518hg38UCSC Ensembl
chr2:31581170..31587384hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg386215
hg196215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910705
Samples
Known GenesXDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441735
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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