A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196313



Internal ID22346348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53868486..53868555hg38UCSC Ensembl
chr2:54095623..54095692hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289275, nssv14289276, nssv14454844
SamplesHG00732, HG00733
Known GenesPSME4
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196313
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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