A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456333



Internal ID15516398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:68925728..68949245hg38UCSC Ensembl
Innerchr14:69392445..69415962hg19UCSC Ensembl
Innerchr14:68462198..68485715hg18UCSC Ensembl
Innerchr14:68462198..68485715hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3823518
hg1923518
hg1823518
hg1723518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533674
Samples1782681216_A
Known GenesACTN1
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)nsv456333
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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