A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458049



Internal ID15518114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:33977149..34012174hg38UCSC Ensembl
Innerchr18:31557113..31592138hg19UCSC Ensembl
Innerchr18:29811111..29846136hg18UCSC Ensembl
Innerchr18:29811111..29846136hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3835026
hg1935026
hg1835026
hg1735026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535105
SamplesHGDP01256
Known GenesNOL4
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)nsv458049
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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