A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533423



Internal ID15161874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28513715..28546414hg38UCSC Ensembl
Innerchr2:28736582..28769281hg19UCSC Ensembl
Innerchr2:28590086..28622785hg18UCSC Ensembl
Innerchr2:28648233..28680932hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3832700
hg1932700
hg1832700
hg1732700
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455985
Supporting Variants
SamplesHGDP00863
Known GenesPLB1
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)nssv533423
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