A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv651n27



Internal ID22767380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:45446013..45593228hg38UCSC Ensembl
chr4:45448030..45595245hg19UCSC Ensembl
chr4:45142787..45290002hg18UCSC Ensembl
chr4:45288958..45436173hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38147216
hg19147216
hg18147216
hg17147216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461354, nsv461352
SamplesHGDP00140, HGDP01079
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)dgv651n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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