A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460317



Internal ID15173696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12811189..12852235hg38UCSC Ensembl
Innerchr1:12871327..12912088hg19UCSC Ensembl
Innerchr1:12793914..12834675hg18UCSC Ensembl
Innerchr1:12805593..12846354hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3841047
hg1940762
hg1840762
hg1740762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8n27
Supporting Variantsnssv536914
Samples1787431167_A
Known GenesHNRNPCL1, LOC649330, PRAMEF11
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)nsv460317
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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