A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067300



Internal ID18809831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25340361..25370579hg38UCSC Ensembl
Innerchr22:25736328..25766546hg19UCSC Ensembl
Innerchr22:24066328..24096546hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3830219
hg1930219
hg1830219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600712
Samples
Known GenesLRP5L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067300
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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