A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495856



Internal ID272952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112360929..112394785hg38UCSC Ensembl
chr12:112798733..112832589hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3833857
hg1933857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684549
Samples
Known GenesHECTD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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