A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197576



Internal ID22347440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132777430..132777763hg38UCSC Ensembl
chr8:133789676..133790009hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465489
SamplesHG00733
Known GenesPHF20L1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197576
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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