A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467105



Internal ID15527170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194574153..194637852hg38UCSC Ensembl
Innerchr1:194543283..194606982hg19UCSC Ensembl
Innerchr1:192809906..192873605hg18UCSC Ensembl
Innerchr1:191274940..191338639hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863700
hg1963700
hg1863700
hg1763700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542523
Samples1780862001_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)nsv467105
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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