A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055829



Internal ID18798360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55557920..55621512hg38UCSC Ensembl
Innerchr16:55591832..55655424hg19UCSC Ensembl
Innerchr16:54149333..54212925hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3863593
hg1963593
hg1863593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2984n100
Supporting Variantsnssv3559288
Samples
Known GenesCAPNS2, LPCAT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055829
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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