A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456438



Internal ID15516503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104257096..104325917hg38UCSC Ensembl
Innerchr14:104723433..104792254hg19UCSC Ensembl
Innerchr14:103793186..103863299hg18UCSC Ensembl
Innerchr14:103793186..103863299hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3868822
hg1968822
hg1870114
hg1770114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv264n27
Supporting Variantsnssv533757
Samples1780862388_A
Known Genes
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)nsv456438
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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