A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458087



Internal ID15171466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57657967..57685157hg38UCSC Ensembl
Innerchr18:55325199..55352389hg19UCSC Ensembl
Innerchr18:53476197..53503387hg18UCSC Ensembl
Innerchr18:53476197..53503387hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3827191
hg1927191
hg1827191
hg1727191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535126
SamplesHGDP00540
Known GenesATP8B1, LOC100505549
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)nsv458087
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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