A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460430



Internal ID15173809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12594207..12776123hg38UCSC Ensembl
Innerchr3:12635706..12817622hg19UCSC Ensembl
Innerchr3:12610706..12792622hg18UCSC Ensembl
Innerchr3:12610706..12792622hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38181917
hg19181917
hg18181917
hg17181917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv597n27
Supporting Variantsnssv537008
SamplesHGDP01018
Known GenesRAF1, TMEM40
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)nsv460430
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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