A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142250



Internal ID18927121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3306090..3326651hg38UCSC Ensembl
Outerchr19:3306088..3326649hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3820562
hg1920562
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993755
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142250
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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