A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588777



Internal ID16376186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25447917hg38UCSC Ensembl
Innerchr22:25661725..25843884hg19UCSC Ensembl
Innerchr22:23991725..24173884hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38182160
hg19182160
hg18182160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8072n54
Supporting Variantsnssv1151639
SamplesNINDS_39
Known GenesIGLL3P, LRP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588777
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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