A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175853



Internal ID22333587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55744303..55745328hg38UCSC Ensembl
chr8:56656862..56657887hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9182n152
Supporting Variantsnssv14402770
SamplesNA19240
Known GenesTMEM68
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3175853
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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