A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210960



Internal ID22358676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95655242..95655346hg38UCSC Ensembl
chr12:96049018..96049122hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1959n152
Supporting Variantsnssv14365667, nssv14365668
SamplesNA19239, NA19240
Known GenesPGAM1P5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210960
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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