A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461860



Internal ID15175239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186008072..186210350hg38UCSC Ensembl
Innerchr4:186929226..187131504hg19UCSC Ensembl
Innerchr4:187166220..187368498hg18UCSC Ensembl
Innerchr4:187304375..187506653hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38202279
hg19202279
hg18202279
hg17202279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv683n27
Supporting Variantsnssv538198
SamplesHGDP00066
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
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)nsv461860
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