A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460561



Internal ID238540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73647561..73647621hg38UCSC Ensembl
chr6:74357284..74357344hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984184
Samples
Known GenesSLC17A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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