A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456346



Internal ID15169725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80933348..80982038hg38UCSC Ensembl
Innerchr14:81399692..81448382hg19UCSC Ensembl
Innerchr14:80469445..80518135hg18UCSC Ensembl
Innerchr14:80469445..80518135hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3848691
hg1948691
hg1848691
hg1748691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533684
Samples1780862310_A
Known GenesCEP128, TSHR
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)nsv456346
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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