A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464131



Internal ID15524196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:164709839..164800526hg38UCSC Ensembl
Innerchr6:165130872..165214015hg19UCSC Ensembl
Innerchr6:165050862..165134005hg18UCSC Ensembl
Innerchr6:165101283..165184426hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3890688
hg1983144
hg1883144
hg1783144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv789n27
Supporting Variantsnssv540104
SamplesHGDP00872
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)nsv464131
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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