A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467871



Internal ID15181250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48084934..48673319hg38UCSC Ensembl
Innerchr11:48106486..48694871hg19UCSC Ensembl
Innerchr11:48063062..48651447hg18UCSC Ensembl
Innerchr11:48063062..48651447hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38588386
hg19588386
hg18588386
hg17588386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543009
Samples1780862521_A
Known GenesOR4A47, OR4B1, OR4C3, OR4C45, OR4S1, OR4X1, OR4X2, PTPRJ
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)nsv467871
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