A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv347n27



Internal ID18991357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21563897..21728953hg38UCSC Ensembl
chr16:21575218..21740274hg19UCSC Ensembl
chr16:21482719..21647775hg18UCSC Ensembl
chr16:21482719..21647775hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38165057
hg19165057
hg18165057
hg17165057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457445, nsv457446, nsv457450
SamplesNINDS_116, 1780854129_A, 1782681142_A
Known GenesIGSF6, METTL9, OTOA
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)dgv347n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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