A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059800



Internal ID18802331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16981081hg38UCSC Ensembl
Innerchr22:16864886..17461971hg19UCSC Ensembl
Innerchr22:15244886..15841971hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38596858
hg19597086
hg18597086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4460n100
Supporting Variantsnssv3589305
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, GAB4, HSFY1P1, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059800
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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