A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471933



Internal ID249657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138357756..138358341hg38UCSC Ensembl
chr5:137693445..137694030hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974055
Samples
Known GenesKDM3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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