A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541872



Internal ID15506005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:19133734..19173785hg38UCSC Ensembl
Innerchr9:19133732..19173783hg19UCSC Ensembl
Innerchr9:19123732..19163783hg18UCSC Ensembl
Innerchr9:19123732..19163783hg17UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg3840052
hg1940052
hg1840052
hg1740052
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466285
Supporting Variants
SamplesHGDP00319
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)nssv541872
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