A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219345



Internal ID22364390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143213588..143213645hg38UCSC Ensembl
chr8:144295463..144295520hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9428n152
Supporting Variantsnssv14343663, nssv14343662, nssv14343664, nssv14343665, nssv14343666, nssv14439766
SamplesHG00512, HG00731, HG00733, HG00513, HG00514
Known GenesGPIHBP1
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)nsv3219345
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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