A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462205



Internal ID240138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134628013..134629692hg38UCSC Ensembl
chr5:133963703..133965382hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381680
hg191680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975057
Samples
Known GenesSAR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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