A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457331



Internal ID15170710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1401518..1449376hg38UCSC Ensembl
Innerchr16:1451519..1499377hg19UCSC Ensembl
Innerchr16:1391520..1439378hg18UCSC Ensembl
Innerchr16:1391520..1439378hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3847859
hg1947859
hg1847859
hg1747859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534540
SamplesHGDP00579
Known GenesC16orf91, CCDC154, CLCN7, UNKL
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)nsv457331
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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