A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116625



Internal ID19260298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:231356617..231356850hg38UCSC Ensembl
Outerchr1:231492363..231492596hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979186
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116625
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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