A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537256



Internal ID15509133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:83120825..83256297hg38UCSC Ensembl
Innerchr3:83169976..83305448hg19UCSC Ensembl
Innerchr3:83252666..83388138hg18UCSC Ensembl
Innerchr3:83252666..83388138hg17UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38135473
hg19135473
hg18135473
hg17135473
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460738
Supporting Variants
SamplesHGDP00947
Known Genes
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)nssv537256
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