A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14360374



Internal ID22253382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14792452..14792574hg38UCSC Ensembl
chr12:14945386..14945508hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530052
Supporting Variants
SamplesNA19238
Known GenesWBP11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14360374
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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