A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129465



Internal ID19255853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89776233..89776423hg38UCSC Ensembl
Outerchr1:90241792..90241982hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962922
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129465
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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