A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495382



Internal ID272499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56783000..56788128hg38UCSC Ensembl
chr12:57176784..57181912hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385129
hg195129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057788
Samples
Known GenesHSD17B6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495382
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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