A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544581



Internal ID22413615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137715650..137715650hg38UCSC Ensembl
chr9:140610102..140610102hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg386484
hg196484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428996
SamplesHG00514
Known GenesEHMT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544581
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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