A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542105



Internal ID15158278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130226430..130263670hg38UCSC Ensembl
Innerchr9:132988709..133025949hg19UCSC Ensembl
Innerchr9:132028530..132065770hg18UCSC Ensembl
Innerchr9:130068263..130105503hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3837241
hg1937241
hg1837241
hg1737241
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466595
Supporting Variants
SamplesHGDP00011
Known GenesNCS1
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)nssv542105
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