A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182342



Internal ID22337043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65800619..65800717hg38UCSC Ensembl
chr8:66712854..66712952hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454859
SamplesHG00733
Known GenesPDE7A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3182342
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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