A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv535n27



Internal ID20132793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43401987..43419802hg38UCSC Ensembl
chr21:44821867..44839682hg19UCSC Ensembl
chr21:43646295..43664110hg18UCSC Ensembl
chr21:43646295..43664110hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3817816
hg1917816
hg1817816
hg1717816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459282, nsv459280, nsv459281
SamplesNINDS_211, 1780854486_A, HGDP00610
Known GenesSIK1
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)dgv535n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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