A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952046



Internal ID16954233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67628798..67678697hg38UCSC Ensembl
Outerchr16:67662701..67712600hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3849900
hg1949900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000164
SamplesBILGI_BIOE
Known GenesACD, C16orf86, CTCF, ENKD1, GFOD2, PARD6A, RLTPR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952046
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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