A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457152



Internal ID15170531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42752929..42787149hg38UCSC Ensembl
Innerchr2:42980069..43014289hg19UCSC Ensembl
Innerchr2:42833573..42867793hg18UCSC Ensembl
Innerchr2:42891720..42925940hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3834221
hg1934221
hg1834221
hg1734221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534408
SamplesHGDP00656
Known GenesHAAO, MTA3, OXER1
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)nsv457152
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