A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363969



Internal ID22189266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45038593..45038675hg38UCSC Ensembl
chr12:45432376..45432458hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529182
Supporting Variants
SamplesHG00731
Known GenesDBX2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363969
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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