A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504130



Internal ID280939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48784292..48784352hg38UCSC Ensembl
chr12:49178075..49178135hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058197
Samples
Known GenesADCY6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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