A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537011



Internal ID15162803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12614190..12764624hg38UCSC Ensembl
Innerchr3:12655689..12806123hg19UCSC Ensembl
Innerchr3:12630689..12781123hg18UCSC Ensembl
Innerchr3:12630689..12781123hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38150435
hg19150435
hg18150435
hg17150435
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460433
Supporting Variants
SamplesHGDP01019
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)nssv537011
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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