A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464024



Internal ID15177403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:114168157..114516017hg38UCSC Ensembl
Innerchr6:114489321..114837181hg19UCSC Ensembl
Innerchr6:114596014..114943874hg18UCSC Ensembl
Innerchr6:114596014..114943874hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38347861
hg19347861
hg18347861
hg17347861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540026
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)nsv464024
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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