A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116597



Internal ID19286486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:47591792..47592113hg38UCSC Ensembl
Outerchr1:48057464..48057785hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978777
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116597
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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