A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118803



Internal ID19275746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3275902..3276902hg38UCSC Ensembl
Outerchr19:3275900..3276900hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981117
SamplesKWS1
Known GenesCELF5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118803
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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