A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449572



Internal ID227804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27419534..27419604hg38UCSC Ensembl
chr3:27461025..27461095hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932125
Samples
Known GenesSLC4A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449572
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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