A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457137



Internal ID15170516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50726920..50825327hg38UCSC Ensembl
Innerchr15:51019117..51117524hg19UCSC Ensembl
Innerchr15:48806409..48904816hg18UCSC Ensembl
Innerchr15:48806409..48904816hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3898408
hg1998408
hg1898408
hg1798408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534395
SamplesHGDP00977
Known GenesSPPL2A
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)nsv457137
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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