A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229270



Internal ID22371171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1684401..1697250hg38UCSC Ensembl
chr11:1705631..1718480hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3812850
hg1912850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1231n152
Supporting Variantsnssv14357190, nssv14357188, nssv14357193, nssv14357191, nssv14357192, nssv14357195, nssv14357194, nssv14357187, nssv14357189
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAM99B, KRTAP5-6, MOB2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229270
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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