A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530025



Internal ID22399416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62562533..62563047hg38UCSC Ensembl
chr11:62330005..62330519hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1413n152
Supporting Variantsnssv14359763, nssv14359765, nssv14359764, nssv14359767, nssv14359766
SamplesHG00512, NA19238, NA19240, HG00733, HG00514
Known GenesEEF1G
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530025
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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