A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460060



Internal ID15520125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:209223356..209289486hg38UCSC Ensembl
Innerchr2:210088080..210154210hg19UCSC Ensembl
Innerchr2:209796325..209862455hg18UCSC Ensembl
Innerchr2:209913586..209979716hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3866131
hg1966131
hg1866131
hg1766131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536685
Samples1780854441_A
Known Genes
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)nsv460060
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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