A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470600



Internal ID248355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52993739..52993811hg38UCSC Ensembl
chr6:52858537..52858609hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985931
Samples
Known GenesGSTA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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