A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508119



Internal ID284819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56763115..56780910hg38UCSC Ensembl
chr12:57156899..57174694hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3817796
hg1917796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057787
Samples
Known GenesHSD17B6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508119
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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