A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115374



Internal ID19271012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:192500870..192506370hg38UCSC Ensembl
Outerchr1:192470000..192475500hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976424
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115374
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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