A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129615



Internal ID18907472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3556885..3556986hg38UCSC Ensembl
Outerchr19:3556883..3556984hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963890
SamplesKWS1
Known GenesMFSD12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129615
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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