A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533677



Internal ID15512178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:72595825..72622005hg38UCSC Ensembl
Innerchr14:73062533..73088713hg19UCSC Ensembl
Innerchr14:72132286..72158466hg18UCSC Ensembl
Innerchr14:72132286..72158466hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3826181
hg1926181
hg1826181
hg1726181
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456337
Supporting Variants
SamplesNINDS_21
Known GenesDPF3
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)nssv533677
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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