A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222393



Internal ID22366484
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 Variantsnssv14362315, nssv14362316, nssv14362314, nssv14362317
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesADAMTS15
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222393
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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