A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456453



Internal ID15169832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104687768..104742230hg38UCSC Ensembl
Innerchr14:105154105..105208567hg19UCSC Ensembl
Innerchr14:104225150..104279612hg18UCSC Ensembl
Innerchr14:104225150..104279612hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3854463
hg1954463
hg1854463
hg1754463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv266n27
Supporting Variantsnssv533767
SamplesHGDP00558
Known GenesADSSL1, INF2
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)nsv456453
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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