A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058439



Internal ID18800970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960705..22219583hg38UCSC Ensembl
Innerchr22:22315077..22573975hg19UCSC Ensembl
Innerchr22:20645077..20903975hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38258879
hg19258899
hg18258899
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4497n100
Supporting Variantsnssv3588860, nssv3731946, nssv3588853, nssv3588849, nssv3588861, nssv3588857, nssv3731951, nssv3588852, nssv3588854, nssv3731949, nssv3588848, nssv3588858, nssv3588856, nssv3588850, nssv3731948, nssv3731947, nssv3588859, nssv3588851, nssv3588855, nssv3731952, nssv3731950
Samples
Known GenesTOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058439
Frequency
Sample Size29084
Observed Gain14
Observed Loss7
Observed Complex0
Frequencyn/a


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