A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459869



Internal ID15173248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29371936..29411866hg38UCSC Ensembl
Innerchr22:29767925..29807855hg19UCSC Ensembl
Innerchr22:28097925..28137855hg18UCSC Ensembl
Innerchr22:28092479..28132409hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3839931
hg1939931
hg1839931
hg1739931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv579n27
Supporting Variantsnssv536535
SamplesHGDP01276
Known GenesAP1B1
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)nsv459869
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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