A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551097



Internal ID324581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43656653..43656671hg38UCSC Ensembl
chr1:44122324..44122342hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901583
Samples
Known GenesKDM4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551097
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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