A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460330



Internal ID15173709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2312351..2910530hg38UCSC Ensembl
Innerchr3:2354035..2952214hg19UCSC Ensembl
Innerchr3:2329035..2927214hg18UCSC Ensembl
Innerchr3:2329035..2927214hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38598180
hg19598180
hg18598180
hg17598180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv587n27
Supporting Variantsnssv536925
Samples1780854080_A
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)nsv460330
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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