A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542037



Internal ID15163315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113143570..113174623hg38UCSC Ensembl
Innerchr9:115905850..115936903hg19UCSC Ensembl
Innerchr9:114945671..114976724hg18UCSC Ensembl
Innerchr9:112985404..113016457hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3831054
hg1931054
hg1831054
hg1731054
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466507
Supporting Variants
SamplesHGDP01171
Known GenesFKBP15, SLC31A2
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)nssv542037
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