A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366680



Internal ID22299651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124479851..124484150hg38UCSC Ensembl
chr12:124964397..124968696hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213771
Supporting Variants
SamplesNA19240
Known GenesNCOR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366680
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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