A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457109



Internal ID15517174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:35729419..36021764hg38UCSC Ensembl
Innerchr15:36021620..36313965hg19UCSC Ensembl
Innerchr15:33808912..34101257hg18UCSC Ensembl
Innerchr15:33808912..34101257hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38292346
hg19292346
hg18292346
hg17292346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534375
Samples1780854279_A
Known GenesDPH6-AS1, MIR4510
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)nsv457109
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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