A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460344



Internal ID15520409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4051238..4094550hg38UCSC Ensembl
Innerchr3:4092922..4136234hg19UCSC Ensembl
Innerchr3:4067922..4111234hg18UCSC Ensembl
Innerchr3:4067922..4111234hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3843313
hg1943313
hg1843313
hg1743313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536936
Samples1780854016_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)nsv460344
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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