A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443004



Internal ID221411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74668936..75021425hg38UCSC Ensembl
chr2:74896063..75248552hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38352490
hg19352490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914117
Samples
Known GenesHK2, POLE4, SEMA4F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443004
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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