A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494141



Internal ID271297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129527330..130603455hg38UCSC Ensembl
chr12:130011875..131088000hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381076126
hg191076126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685404
Samples
Known GenesFZD10, FZD10-AS1, LOC100190940, PIWIL1, RIMBP2, TMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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