A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456118



Internal ID15516183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110191841..110199461hg38UCSC Ensembl
Innerchr13:110844188..110851808hg19UCSC Ensembl
Innerchr13:109642189..109649809hg18UCSC Ensembl
Innerchr13:109642189..109649809hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg387621
hg197621
hg187621
hg177621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv241n27
Supporting Variantsnssv533521
SamplesHGDP00868
Known GenesCOL4A1
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)nsv456118
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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