A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv944n27



Internal ID20133202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113090435..113104996hg38UCSC Ensembl
chr9:115852715..115867276hg19UCSC Ensembl
chr9:114892536..114907097hg18UCSC Ensembl
chr9:112932269..112946830hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3814562
hg1914562
hg1814562
hg1714562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466502, nsv466501, nsv466497, nsv466503, nsv466496, nsv466499, nsv466500, nsv466498
SamplesHGDP00216, HGDP00920, HGDP00931, HGDP00906, HGDP00160, HGDP01094, HGDP00918, HGDP00454
Known GenesFAM225B
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)dgv944n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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