A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060661



Internal ID18803192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15500921..15922838hg38UCSC Ensembl
Innerchr22:16055171..16477042hg19UCSC Ensembl
Innerchr22:14435171..14857042hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38421918
hg19421872
hg18421872
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4453n100
Supporting Variantsnssv3589164
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)nsv1060661
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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