A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460016



Internal ID15173395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197766990..197848507hg38UCSC Ensembl
Innerchr2:198631714..198713231hg19UCSC Ensembl
Innerchr2:198339959..198421476hg18UCSC Ensembl
Innerchr2:198457220..198538737hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3881518
hg1981518
hg1881518
hg1781518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536644
SamplesNINDS_118
Known GenesBOLL, PLCL1
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)nsv460016
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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