A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076517



Internal ID19321844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8673566..8676267hg38UCSC Ensembl
chr21:9562399..9565100hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763287
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076517
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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