A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065486



Internal ID18808017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17883901..17965363hg38UCSC Ensembl
Innerchr22:18366667..18448129hg19UCSC Ensembl
Innerchr22:16746667..16828129hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3881463
hg1981463
hg1881463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589342, nssv3589341
Samples
Known GenesMICAL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065486
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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