A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455960



Internal ID15516025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68965050..69016545hg38UCSC Ensembl
Innerchr13:69539182..69590677hg19UCSC Ensembl
Innerchr13:68437183..68488678hg18UCSC Ensembl
Innerchr13:68437183..68488678hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3851496
hg1951496
hg1851496
hg1751496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533407
Samples1780862380_A
Known GenesMIR548H4
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)nsv455960
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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