A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461121



Internal ID15521186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191678183..191713707hg38UCSC Ensembl
Innerchr3:191395972..191431496hg19UCSC Ensembl
Innerchr3:192878666..192914190hg18UCSC Ensembl
Innerchr3:192878674..192914198hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3835525
hg1935525
hg1835525
hg1735525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537569
Samples1780854436_A
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)nsv461121
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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