A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124780



Internal ID19269417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:24412998..24448898hg38UCSC Ensembl
Outerchr19:24595800..24631700hg19UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg3835901
hg1935901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976833
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124780
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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