A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457279



Internal ID15517344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99789846..100059028hg38UCSC Ensembl
Innerchr15:100330051..100599233hg19UCSC Ensembl
Innerchr15:98147574..98416756hg18UCSC Ensembl
Innerchr15:98147574..98416756hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38269183
hg19269183
hg18269183
hg17269183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv332n27
Supporting Variantsnssv534506
SamplesHGDP00986
Known GenesADAMTS17, DNM1P46
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)nsv457279
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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