A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537049



Internal ID15509442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:33468269..33561415hg38UCSC Ensembl
Innerchr3:33509761..33602907hg19UCSC Ensembl
Innerchr3:33484765..33577911hg18UCSC Ensembl
Innerchr3:33484765..33577911hg17UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3893147
hg1993147
hg1893147
hg1793147
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460487
Supporting Variants
SamplesHGDP01010
Known GenesCLASP2
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)nssv537049
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