A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499077



Internal ID276057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52843310..52843633hg38UCSC Ensembl
chr12:53237094..53237417hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058292
Samples
Known GenesKRT78
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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