A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457128



Internal ID15517193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:46904168..46988457hg38UCSC Ensembl
Innerchr15:47196366..47280655hg19UCSC Ensembl
Innerchr15:44983658..45067947hg18UCSC Ensembl
Innerchr15:44983658..45067947hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3884290
hg1984290
hg1884290
hg1784290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534387
Samples1780862530_A
Known GenesMIR548A3, MIR548U
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)nsv457128
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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