A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508207



Internal ID284903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56784620..56790493hg38UCSC Ensembl
chr12:57178404..57184277hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385874
hg195874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057789
Samples
Known GenesHSD17B6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508207
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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