A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537008



Internal ID15162788
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460430
Supporting Variants
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)nssv537008
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer