A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv52n27



Internal ID22766781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195197781..195311294hg38UCSC Ensembl
chr1:195166911..195280424hg19UCSC Ensembl
chr1:193433534..193547047hg18UCSC Ensembl
chr1:191898568..192012081hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38113514
hg19113514
hg18113514
hg17113514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467183, nsv467194
Samples1798860071_A, 1780862001_A
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)dgv52n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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