A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466478



Internal ID15526543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:108243458..108270031hg38UCSC Ensembl
Innerchr9:111005738..111032311hg19UCSC Ensembl
Innerchr9:110045559..110072132hg18UCSC Ensembl
Innerchr9:108085293..108111866hg17UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3826574
hg1926574
hg1826574
hg1726574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542008
Samples1780854491_A
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)nsv466478
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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