A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460108



Internal ID15520173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:223680101..223751439hg38UCSC Ensembl
Innerchr2:224544818..224616156hg19UCSC Ensembl
Innerchr2:224253062..224324400hg18UCSC Ensembl
Innerchr2:224370323..224441661hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3871339
hg1971339
hg1871339
hg1771339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536725
Samples1780854517_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)nsv460108
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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