A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455878



Internal ID15515943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47248841..47268545hg38UCSC Ensembl
Innerchr13:47822976..47842680hg19UCSC Ensembl
Innerchr13:46720977..46740681hg18UCSC Ensembl
Innerchr13:46720977..46740681hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3819705
hg1919705
hg1819705
hg1719705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533338
Samples1780854257_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)nsv455878
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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