A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448298



Internal ID226578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70986915..70987533hg38UCSC Ensembl
chr2:71214045..71214663hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914660
Samples
Known GenesTEX261
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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