A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499198



Internal ID276174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3215072..3215183hg38UCSC Ensembl
chr12:3324238..3324349hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054957
Samples
Known GenesTSPAN9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499198
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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