A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206439



Internal ID22354980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80090216..80090270hg38UCSC Ensembl
chr17:78064015..78064069hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386791
SamplesNA19240
Known GenesCCDC40
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206439
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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