A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456092



Internal ID15516157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99421411..99440877hg38UCSC Ensembl
Innerchr13:100073665..100093131hg19UCSC Ensembl
Innerchr13:98871666..98891132hg18UCSC Ensembl
Innerchr13:98871666..98891132hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3819467
hg1919467
hg1819467
hg1719467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533496
Samples1780854483_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)nsv456092
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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