A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14359548



Internal ID22270380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10623061..10623061hg38UCSC Ensembl
chr12:10775660..10775660hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559720
Supporting Variants
SamplesNA19239
Known GenesSTYK1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14359548
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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