A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124842



Internal ID19273593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10522557..10542957hg38UCSC Ensembl
Outerchr21:10969500..10989900hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3820401
hg1920401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976896
SamplesKWS2
Known GenesTPTE
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124842
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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