A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv952n27



Internal ID22767681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135247660..135419084hg38UCSC Ensembl
chr9:138139506..138310930hg19UCSC Ensembl
chr9:137279327..137450751hg18UCSC Ensembl
chr9:135365451..135536875hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38171425
hg19171425
hg18171425
hg17171425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466642, nsv466655, nsv466653, nsv466643, nsv466648
Samples1780854090_A, 1782681087_A, 1780862066_A, 1798860567_A, 1780854017_A
Known GenesC9orf62
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)dgv952n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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