A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508504



Internal ID285192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122923128..122923350hg38UCSC Ensembl
chr12:123407675..123407897hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690770
Samples
Known GenesABCB9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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