A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420260



Internal ID199368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43672251..43672557hg38UCSC Ensembl
chr1:44137922..44138228hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901585
Samples
Known GenesKDM4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420260
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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