A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456093



Internal ID15169472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99965051..100014379hg38UCSC Ensembl
Innerchr13:100617305..100666633hg19UCSC Ensembl
Innerchr13:99415306..99464634hg18UCSC Ensembl
Innerchr13:99415306..99464634hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3849329
hg1949329
hg1849329
hg1749329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533497
Samples1780862100_A
Known GenesLINC00554, ZIC2, ZIC5
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)nsv456093
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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