A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462642



Internal ID15522707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:16018884..16055795hg38UCSC Ensembl
Innerchr6:16019115..16056026hg19UCSC Ensembl
Innerchr6:16127094..16164005hg18UCSC Ensembl
Innerchr6:16127094..16164005hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3836912
hg1936912
hg1836912
hg1736912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538749
SamplesHGDP01336
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)nsv462642
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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