A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061893



Internal ID18804424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15471515..15900834hg38UCSC Ensembl
Innerchr22:16077129..16506448hg19UCSC Ensembl
Innerchr22:14457129..14886448hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38429320
hg19429320
hg18429320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4452n100
Supporting Variantsnssv3589225
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)nsv1061893
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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