A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467216



Internal ID15527281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195257121..195417767hg38UCSC Ensembl
Innerchr1:195226251..195386897hg19UCSC Ensembl
Innerchr1:193492874..193653520hg18UCSC Ensembl
Innerchr1:191957908..192118554hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38160647
hg19160647
hg18160647
hg17160647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53n27
Supporting Variantsnssv542560
SamplesHGDP00700
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)nsv467216
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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