A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076519



Internal ID19318020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9097166..9100267hg38UCSC Ensembl
chr21:9935999..9939100hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768961
SamplesKWP1
Known GenesTEKT4P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076519
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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