A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445364



Internal ID223715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39739673..39743348hg38UCSC Ensembl
chr2:39966813..39970488hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg383676
hg193676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911505
Samples
Known GenesTHUMPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445364
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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