A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459719



Internal ID15519784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25513237hg38UCSC Ensembl
Innerchr22:25661725..25909204hg19UCSC Ensembl
Innerchr22:23991725..24239204hg18UCSC Ensembl
Innerchr22:23986279..24233758hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38247480
hg19247480
hg18247480
hg17247480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv576n27
Supporting Variantsnssv536437
Samples1780854467_A
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv459719
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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