A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129618



Internal ID18914960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:17315088..17315148hg38UCSC Ensembl
Outerchr19:17425897..17425957hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963894
SamplesKWS1
Known GenesDDA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129618
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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