A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv53n27



Internal ID22766782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195253450..195417767hg38UCSC Ensembl
chr1:195222580..195386897hg19UCSC Ensembl
chr1:193489203..193653520hg18UCSC Ensembl
chr1:191954237..192118554hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38164318
hg19164318
hg18164318
hg17164318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467205, nsv467216
SamplesHGDP00700, HGDP00737
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)dgv53n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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