A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv33n27



Internal ID18991043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145687602..145824903hg38UCSC Ensembl
chr1:145610210..145747463hg19UCSC Ensembl
chr1:144321567..144458820hg18UCSC Ensembl
chr1:143099254..143236507hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38137302
hg19137254
hg18137254
hg17137254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv463472, nsv463450
SamplesHGDP00766, NINDS_110
Known GenesCD160, LOC100288142, NBPF10, PDZK1, POLR3C, RNF115
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)dgv33n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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