A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457498



Internal ID15517563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:61089804..61133352hg38UCSC Ensembl
Innerchr16:61123708..61167256hg19UCSC Ensembl
Innerchr16:59681209..59724757hg18UCSC Ensembl
Innerchr16:59681209..59724757hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3843549
hg1943549
hg1843549
hg1743549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534677
SamplesHGDP01076
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)nsv457498
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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