A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131222



Internal ID18926906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4998205..4998267hg38UCSC Ensembl
Outerchr16:5048206..5048268hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971006
SamplesKWS1
Known GenesSEC14L5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131222
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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