A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461167



Internal ID15174546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3411482..3444385hg38UCSC Ensembl
Innerchr4:3413209..3446112hg19UCSC Ensembl
Innerchr4:3383007..3415910hg18UCSC Ensembl
Innerchr4:3450178..3483081hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3832904
hg1932904
hg1832904
hg1732904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv637n27
Supporting Variantsnssv537598
SamplesHGDP00975
Known GenesHGFAC, RGS12
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)nsv461167
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