A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512437



Internal ID15851862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48474927..48478037hg38UCSC Ensembl
Outerchr16:48508838..48511948hg19UCSC Ensembl
Outerchr16:47066339..47069449hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383111
hg193111
hg183111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625030
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512437
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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