A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv26n27



Internal ID22766755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:105282939..105407694hg38UCSC Ensembl
chr1:105825561..105950316hg19UCSC Ensembl
chr1:105627084..105751839hg18UCSC Ensembl
chr1:105537582..105662337hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38124756
hg19124756
hg18124756
hg17124756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462939, nsv462951
SamplesNINDS_125, NINDS_117
Known Genes
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)dgv26n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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