A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457539



Internal ID15517604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:76743767..77047779hg38UCSC Ensembl
Innerchr16:76777664..77081676hg19UCSC Ensembl
Innerchr16:75335165..75639177hg18UCSC Ensembl
Innerchr16:75335165..75639177hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38304013
hg19304013
hg18304013
hg17304013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534704
SamplesNINDS_163
Known GenesMIR4719
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)nsv457539
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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