A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364588



Internal ID22145060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132213118..132213279hg38UCSC Ensembl
chr12:132697663..132697824hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224189
Supporting Variants
SamplesHG00514
Known GenesGALNT9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364588
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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