A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461496



Internal ID239445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138401092..138409914hg38UCSC Ensembl
chr5:137736781..137745603hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388823
hg198823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974058
Samples
Known GenesKDM3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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