A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541911



Internal ID15508476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:27845762..27896019hg38UCSC Ensembl
Innerchr9:27845760..27896017hg19UCSC Ensembl
Innerchr9:27835760..27886017hg18UCSC Ensembl
Innerchr9:27835760..27886017hg17UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg3850258
hg1950258
hg1850258
hg1750258
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466340
Supporting Variants
SamplesHGDP00846
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)nssv541911
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