A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463961



Internal ID15524026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:92833560..92897975hg38UCSC Ensembl
Innerchr6:93543278..93607693hg19UCSC Ensembl
Innerchr6:93599999..93664414hg18UCSC Ensembl
Innerchr6:93599999..93664414hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3864416
hg1964416
hg1864416
hg1764416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539971
SamplesHGDP00469
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)nsv463961
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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