A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460325



Internal ID15173704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2108716..2933889hg38UCSC Ensembl
Innerchr3:2150400..2975573hg19UCSC Ensembl
Innerchr3:2125400..2950573hg18UCSC Ensembl
Innerchr3:2125400..2950573hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38825174
hg19825174
hg18825174
hg17825174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536921
SamplesNINDS_227
Known GenesCNTN4, CNTN4-AS2
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)nsv460325
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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