A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129201



Internal ID18918343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55153686..55153776hg38UCSC Ensembl
Outerchr19:55665054..55665144hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1820n106
Supporting Variantsnssv3962632
SamplesKWS1
Known GenesTNNI3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129201
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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