A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396197



Internal ID22330615
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 StatusS
Merged Variantsnsv3228737
Supporting Variants
SamplesNA19240
Known GenesPGAM1P5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14396197
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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