A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457119



Internal ID15517184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41147156..41194454hg38UCSC Ensembl
Innerchr2:41374296..41421594hg19UCSC Ensembl
Innerchr2:41227800..41275098hg18UCSC Ensembl
Innerchr2:41285947..41333245hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3847299
hg1947299
hg1847299
hg1747299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534380
Samples1798860084_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)nsv457119
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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