A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224243



Internal ID22367732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48542391..48542638hg38UCSC Ensembl
chr22:48938203..48938450hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5783n152
Supporting Variantsnssv14303379, nssv14303375, nssv14303377, nssv14303380, nssv14303374, nssv14303381, nssv14303376, nssv14303378
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAM19A5, LOC284933
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224243
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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