A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466317



Internal ID15526382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187762486..187842893hg38UCSC Ensembl
Innerchr1:187731617..187812024hg19UCSC Ensembl
Innerchr1:185998240..186078647hg18UCSC Ensembl
Innerchr1:184463274..184543681hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3880408
hg1980408
hg1880408
hg1780408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541894
SamplesHGDP00664
Known Genes
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)nsv466317
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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