A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3n27



Internal ID22766732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9258342..9352349hg38UCSC Ensembl
chr1:9318401..9412408hg19UCSC Ensembl
chr1:9240988..9334995hg18UCSC Ensembl
chr1:9252667..9346674hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3894008
hg1994008
hg1894008
hg1794008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462839, nsv463950, nsv463061, nsv463172, nsv462950
Samples1780854556_A, HGDP00136, 1780862577_A, 1780854392_A, 1780862066_A
Known GenesH6PD, SPSB1
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)dgv3n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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