A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116127



Internal ID18925417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30495639..30495722hg38UCSC Ensembl
Outerchr16:30506960..30507043hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954447
SamplesKWS1
Known GenesITGAL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116127
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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