A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456434



Internal ID15169813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102467010..102604508hg38UCSC Ensembl
Innerchr14:102933347..103070845hg19UCSC Ensembl
Innerchr14:102003100..102140598hg18UCSC Ensembl
Innerchr14:102003100..102140598hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38137499
hg19137499
hg18137499
hg17137499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263n27
Supporting Variantsnssv533756
SamplesHGDP00576
Known GenesANKRD9, MIR4309, RCOR1, TECPR2
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)nsv456434
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer