A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220615



Internal ID22365268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130470130..130470186hg38UCSC Ensembl
chr11:130340025..130340081hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1630n152
Supporting Variantsnssv14444869
SamplesHG00733
Known GenesADAMTS15
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220615
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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