A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv369n27



Internal ID20132627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48543040..48621348hg38UCSC Ensembl
chr17:46620402..46698710hg19UCSC Ensembl
chr17:43975401..44053709hg18UCSC Ensembl
chr17:43975401..44053709hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3878309
hg1978309
hg1878309
hg1778309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457824, nsv457822
SamplesNINDS_210, NINDS_201
Known GenesHOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXB-AS1, HOXB-AS3, MIR10A
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)dgv369n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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