A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469503



Internal ID15529568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84647495..84718697hg38UCSC Ensembl
Innerchr12:85041274..85112476hg19UCSC Ensembl
Innerchr12:83565405..83636607hg18UCSC Ensembl
Innerchr12:83543742..83614944hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3871203
hg1971203
hg1871203
hg1771203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544357
SamplesHGDP00643
Known GenesMIR548T
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)nsv469503
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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