A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458076



Internal ID15518141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:52603967..52631708hg38UCSC Ensembl
Innerchr18:50130337..50158078hg19UCSC Ensembl
Innerchr18:48384335..48412076hg18UCSC Ensembl
Innerchr18:48384335..48412076hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3827742
hg1927742
hg1827742
hg1727742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535120
Samples1780854206_A
Known GenesDCC
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)nsv458076
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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