A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461550



Internal ID15521615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54303656..54321736hg38UCSC Ensembl
Innerchr1:54769329..54787409hg19UCSC Ensembl
Innerchr1:54541917..54559997hg18UCSC Ensembl
Innerchr1:54481350..54499430hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3818081
hg1918081
hg1818081
hg1718081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537929
SamplesHGDP00857
Known GenesSSBP3
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)nsv461550
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