A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685404



Internal ID109070
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 StatusS
Merged Variantsnsv5494141
Supporting Variants
Samples
Known GenesFZD10, FZD10-AS1, LOC100190940, PIWIL1, RIMBP2, TMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685404
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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