A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458039



Internal ID15518104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:28998016..29039434hg38UCSC Ensembl
Innerchr18:26577980..26619398hg19UCSC Ensembl
Innerchr18:24831978..24873396hg18UCSC Ensembl
Innerchr18:24831978..24873396hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3841419
hg1941419
hg1841419
hg1741419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535097
SamplesHGDP01201
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)nsv458039
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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