A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541969



Internal ID15506599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:73647244..73705982hg38UCSC Ensembl
Innerchr9:76262160..76320898hg19UCSC Ensembl
Innerchr9:75451980..75510718hg18UCSC Ensembl
Innerchr9:73491714..73550452hg17UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3858739
hg1958739
hg1858739
hg1758739
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466421
Supporting Variants
SamplesHGDP00529
Known Genes
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)nssv541969
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