A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055243



Internal ID19144462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17216891..17241646hg38UCSC Ensembl
Innerchr22:17697781..17722536hg19UCSC Ensembl
Innerchr22:16077781..16102536hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3824756
hg1924756
hg1824756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589327
Samples
Known GenesCECR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055243
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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