A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221907



Internal ID22366142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41466582..41466924hg38UCSC Ensembl
chr22:41862586..41862928hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303652, nssv14303651, nssv14303646, nssv14303650, nssv14303649, nssv14303648, nssv14303645, nssv14303653, nssv14303647
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPHF5A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221907
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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