A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461153



Internal ID15174532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1181073..1261142hg38UCSC Ensembl
Innerchr4:1174861..1254930hg19UCSC Ensembl
Innerchr4:1164861..1244930hg18UCSC Ensembl
Innerchr4:1164691..1244760hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3880070
hg1980070
hg1880070
hg1780070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv636n27
Supporting Variantsnssv537588
SamplesHGDP00546
Known GenesCTBP1, CTBP1-AS, CTBP1-AS2, LOC100130872, SPON2
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)nsv461153
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