A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180436



Internal ID22336068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54594291..54594360hg38UCSC Ensembl
chr8:55506851..55506920hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14427623
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3180436
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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