A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458042



Internal ID15518107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:29818668..29886212hg38UCSC Ensembl
Innerchr18:27398633..27466177hg19UCSC Ensembl
Innerchr18:25652631..25720175hg18UCSC Ensembl
Innerchr18:25652631..25720175hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3867545
hg1967545
hg1867545
hg1767545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv378n27
Supporting Variantsnssv535099
SamplesHGDP01250
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)nsv458042
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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