A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542702



Internal ID317095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120990548..120990598hg38UCSC Ensembl
chr12:121428351..121428401hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684949
Samples
Known GenesHNF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542702
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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