A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466399



Internal ID15179778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69476497..69519460hg38UCSC Ensembl
Innerchr9:72091413..72134376hg19UCSC Ensembl
Innerchr9:71281233..71324196hg18UCSC Ensembl
Innerchr9:69320967..69363930hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3842964
hg1942964
hg1842964
hg1742964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541948
SamplesHGDP00464
Known GenesAPBA1
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)nsv466399
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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