A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495665



Internal ID272769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55823985..55825781hg38UCSC Ensembl
chr12:56217769..56219565hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381797
hg191797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057778
Samples
Known GenesDNAJC14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495665
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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