A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217956



Internal ID22363459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64199454..64199624hg38UCSC Ensembl
chr11:63966926..63967096hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14359817, nssv14359815, nssv14359813, nssv14359814, nssv14359816
SamplesHG00512, NA19238, HG00731, HG00732, NA19240
Known GenesSTIP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217956
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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