A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541773



Internal ID15510689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:10172573..10277602hg38UCSC Ensembl
Innerchr9:10172573..10277602hg19UCSC Ensembl
Innerchr9:10162573..10267602hg18UCSC Ensembl
Innerchr9:10162573..10267602hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38105030
hg19105030
hg18105030
hg17105030
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466158
Supporting Variants
SamplesHGDP01283
Known GenesPTPRD
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)nssv541773
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