A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466597



Internal ID15179976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130443364..130460028hg38UCSC Ensembl
Innerchr9:133318751..133335415hg19UCSC Ensembl
Innerchr9:132308572..132325236hg18UCSC Ensembl
Innerchr9:130348305..130364969hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3816665
hg1916665
hg1816665
hg1716665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542107
SamplesHGDP00663
Known GenesASS1
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)nsv466597
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