A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459993



Internal ID15520058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:192364665..192454988hg38UCSC Ensembl
Innerchr2:193229391..193319714hg19UCSC Ensembl
Innerchr2:192937636..193027959hg18UCSC Ensembl
Innerchr2:193054897..193145220hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3890324
hg1990324
hg1890324
hg1790324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536631
Samples1780862381_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)nsv459993
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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