A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457499



Internal ID15517564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:61090294..61169953hg38UCSC Ensembl
Innerchr16:61124198..61203857hg19UCSC Ensembl
Innerchr16:59681699..59761358hg18UCSC Ensembl
Innerchr16:59681699..59761358hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3879660
hg1979660
hg1879660
hg1779660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534678
SamplesHGDP00153
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)nsv457499
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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