A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458046



Internal ID15518111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:33803925..33837208hg38UCSC Ensembl
Innerchr18:31383889..31417172hg19UCSC Ensembl
Innerchr18:29637887..29671170hg18UCSC Ensembl
Innerchr18:29637887..29671170hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3833284
hg1933284
hg1833284
hg1733284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379n27
Supporting Variantsnssv535102
Samples1780862276_A
Known Genes
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)nsv458046
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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