A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497446



Internal ID274478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124221299..124233740hg38UCSC Ensembl
chr12:124705845..124718286hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3812442
hg1912442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690863
Samples
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497446
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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