A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148080



Internal ID19195496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8888223..8911424hg38UCSC Ensembl
Outerchr19:8998899..9022100hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3823202
hg1923202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001587
SamplesKWB1
Known GenesMUC16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148080
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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