A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542133



Internal ID15503869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134290253..134351537hg38UCSC Ensembl
Innerchr9:137182099..137243383hg19UCSC Ensembl
Innerchr9:136321920..136383204hg18UCSC Ensembl
Innerchr9:134361653..134422937hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3861285
hg1961285
hg1861285
hg1761285
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466633
Supporting Variants
Samples1780862444_A
Known GenesRXRA
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)nssv542133
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