A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536922



Internal ID15164632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2267695..2773579hg38UCSC Ensembl
Innerchr3:2309379..2815263hg19UCSC Ensembl
Innerchr3:2284379..2790263hg18UCSC Ensembl
Innerchr3:2284379..2790263hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38505885
hg19505885
hg18505885
hg17505885
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460327
Supporting Variants
SamplesHGDP01396
Known GenesCNTN4
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)nssv536922
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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