A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455974



Internal ID15169353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26989775..27128411hg38UCSC Ensembl
Innerchr2:27212643..27351279hg19UCSC Ensembl
Innerchr2:27066147..27204783hg18UCSC Ensembl
Innerchr2:27124294..27262930hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38138637
hg19138637
hg18138637
hg17138637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533415
SamplesHGDP00859
Known GenesABHD1, AGBL5, CGREF1, EMILIN1, KHK, MAPRE3, OST4, TMEM214
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)nsv455974
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