A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461354



Internal ID15521419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45478057..45593228hg38UCSC Ensembl
Innerchr4:45480074..45595245hg19UCSC Ensembl
Innerchr4:45174831..45290002hg18UCSC Ensembl
Innerchr4:45321002..45436173hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38115172
hg19115172
hg18115172
hg17115172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv651n27
Supporting Variantsnssv537748
SamplesHGDP01079
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)nsv461354
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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