A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549649



Internal ID22418591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80147116..80147116hg38UCSC Ensembl
chr17:78120915..78120915hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447332
SamplesHG00733
Known GenesEIF4A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549649
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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