A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140562



Internal ID339755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128958409..128969520hg38UCSC Ensembl
chr5:128294102..128305213hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3811112
hg1911112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974971
Samples
Known GenesSLC27A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140562
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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