A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542071



Internal ID15160364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114284841..114343856hg38UCSC Ensembl
Innerchr9:117047121..117106136hg19UCSC Ensembl
Innerchr9:116086942..116145957hg18UCSC Ensembl
Innerchr9:114126675..114185690hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3859016
hg1959016
hg1859016
hg1759016
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466546
Supporting Variants
SamplesHGDP00600
Known GenesAKNA, COL27A1, ORM1, ORM2
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)nssv542071
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