A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456446



Internal ID15169825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104660017..104723167hg38UCSC Ensembl
Innerchr14:105126354..105189504hg19UCSC Ensembl
Innerchr14:104197399..104260549hg18UCSC Ensembl
Innerchr14:104197399..104260549hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3863151
hg1963151
hg1863151
hg1763151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265n27
Supporting Variantsnssv533764
SamplesNINDS_105
Known GenesINF2, MIR4710
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)nsv456446
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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