A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451727



Internal ID229900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32147756..32204464hg38UCSC Ensembl
chr2:32372825..32429533hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3856709
hg1956709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912030
Samples
Known GenesSLC30A6, SPAST
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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