A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457480



Internal ID15170859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28958159..29032129hg38UCSC Ensembl
Innerchr16:28969480..29043450hg19UCSC Ensembl
Innerchr16:28876981..28950951hg18UCSC Ensembl
Innerchr16:28876981..28950951hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3873971
hg1973971
hg1873971
hg1773971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534663
Samples1780862078_A
Known GenesLAT, MIR4517, NFATC2IP, SPNS1
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)nsv457480
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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