A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129240



Internal ID19263773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:168863099..168863156hg38UCSC Ensembl
Outerchr3:168580887..168580944hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962672
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129240
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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