A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456731



Internal ID15170110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25153197..25204590hg38UCSC Ensembl
Innerchr15:25398344..25449737hg19UCSC Ensembl
Innerchr15:22949437..23000830hg18UCSC Ensembl
Innerchr15:22949437..23000830hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3851394
hg1951394
hg1851394
hg1751394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534023
SamplesNINDS_184
Known GenesSNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-29, SNORD115-3, SNORD115-36, SNORD115-4, SNORD115-43, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9
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)nsv456731
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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