A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459760



Internal ID15519825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25514588hg38UCSC Ensembl
Innerchr22:25664408..25910555hg19UCSC Ensembl
Innerchr22:23994408..24240555hg18UCSC Ensembl
Innerchr22:23988962..24235109hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246148
hg19246148
hg18246148
hg17246148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv576n27
Supporting Variantsnssv536478
SamplesHGDP01377
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)nsv459760
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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