A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457106



Internal ID8484153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34757586..34935412hg38UCSC Ensembl
Innerchr15:35049787..35227613hg19UCSC Ensembl
Innerchr15:32837079..33014905hg18UCSC Ensembl
Innerchr15:32837079..33014905hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38177827
hg19177827
hg18177827
hg17177827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534372
Samples1780862252_A
Known GenesACTC1, AQR
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)nsv457106
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer