A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060119



Internal ID18802650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15500921..15875556hg38UCSC Ensembl
Innerchr22:16102407..16477042hg19UCSC Ensembl
Innerchr22:14482407..14857042hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38374636
hg19374636
hg18374636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4452n100
Supporting Variantsnssv3589266
Samples
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060119
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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