A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv912n27



Internal ID11602127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2018825..2069765hg38UCSC Ensembl
chr9:2018825..2069765hg19UCSC Ensembl
chr9:2008825..2059765hg18UCSC Ensembl
chr9:2008825..2059765hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3850941
hg1950941
hg1850941
hg1750941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466073, nsv466071, nsv466069
Samples1780862414_A, 1780862100_A, 1780862345_A
Known GenesSMARCA2
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)dgv912n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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