A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457577



Internal ID15170956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81739604..81774628hg38UCSC Ensembl
Innerchr16:81773209..81808233hg19UCSC Ensembl
Innerchr16:80330710..80365734hg18UCSC Ensembl
Innerchr16:80330710..80365734hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3835025
hg1935025
hg1835025
hg1735025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534736
SamplesNINDS_74
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)nsv457577
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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