A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534736



Internal ID15166208
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457577
Supporting Variants
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)nssv534736
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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