A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537447



Internal ID15162955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:172621962..172680078hg38UCSC Ensembl
Innerchr3:172339752..172397868hg19UCSC Ensembl
Innerchr3:173822446..173880562hg18UCSC Ensembl
Innerchr3:173822454..173880570hg17UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3858117
hg1958117
hg1858117
hg1758117
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460991
Supporting Variants
SamplesHGDP01056
Known GenesNCEH1
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)nssv537447
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