A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536264



Internal ID15509755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:140563591..140592531hg38UCSC Ensembl
Innerchr2:141321160..141350100hg19UCSC Ensembl
Innerchr2:141037630..141066570hg18UCSC Ensembl
Innerchr2:141154892..141183832hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3828941
hg1928941
hg1828941
hg1728941
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459529
Supporting Variants
SamplesHGDP01075
Known GenesLRP1B
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)nssv536264
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