A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460427



Internal ID15173806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:11988560..12026985hg38UCSC Ensembl
Innerchr3:12030034..12068485hg19UCSC Ensembl
Innerchr3:12005034..12043485hg18UCSC Ensembl
Innerchr3:12005034..12043485hg17UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3838426
hg1938452
hg1838452
hg1738452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537005
Samples1780862197_A
Known GenesSYN2
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)nsv460427
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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