A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212827



Internal ID22359959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48653714..48657021hg38UCSC Ensembl
chr10:49861759..49865066hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383308
hg193308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv920n152
Supporting Variantsnssv14344310, nssv14344312, nssv14344311, nssv14344309
SamplesHG00512, HG00731, NA19240, HG00514
Known GenesARHGAP22
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212827
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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