A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056003



Internal ID18798534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15485262..15922838hg38UCSC Ensembl
Innerchr22:16055171..16492701hg19UCSC Ensembl
Innerchr22:14435171..14872701hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38437577
hg19437531
hg18437531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4453n100
Supporting Variantsnssv3589206
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)nsv1056003
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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