A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457483



Internal ID8484530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30892358..31180161hg38UCSC Ensembl
Innerchr16:30903679..31191482hg19UCSC Ensembl
Innerchr16:30811180..31098983hg18UCSC Ensembl
Innerchr16:30811180..31098983hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38287804
hg19287804
hg18287804
hg17287804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534665
SamplesNINDS_207
Known GenesBCKDK, BCL7C, CTF1, FBXL19, FBXL19-AS1, FUS, HSD3B7, KAT8, MIR762, ORAI3, PRSS36, PRSS53, PRSS8, SETD1A, STX1B, STX4, VKORC1, ZNF646, ZNF668
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)nsv457483
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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