A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536911



Internal ID15164541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:1105517..2167148hg38UCSC Ensembl
Innerchr3:1147201..2208832hg19UCSC Ensembl
Innerchr3:1122201..2183832hg18UCSC Ensembl
Innerchr3:1122201..2183832hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381061632
hg191061632
hg181061632
hg171061632
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460312
Supporting Variants
SamplesHGDP01374
Known GenesCNTN4, CNTN4-AS2, CNTN6
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)nssv536911
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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