A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125209



Internal ID18921087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55153676..55153756hg38UCSC Ensembl
Outerchr19:55665044..55665124hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1820n106
Supporting Variantsnssv3978014
SamplesKWS2
Known GenesTNNI3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125209
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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