A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv86n27



Internal ID20132344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46216824..46281263hg38UCSC Ensembl
chr10:47588060..47652499hg19UCSC Ensembl
chr10:47058066..47122505hg18UCSC Ensembl
chr10:47058066..47122505hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3864440
hg1964440
hg1864440
hg1764440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467064, nsv467063, nsv467069, nsv467068, nsv467062, nsv467179
SamplesHGDP00682, HGDP00924, NINDS_233, HGDP00547, 1780854449_A, NINDS_51
Known GenesANTXRLP1
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)dgv86n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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