A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115621



Internal ID19261901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45931986..45933186hg38UCSC Ensembl
Outerchr21:47351900..47353100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977430
SamplesKWS2
Known GenesPCBP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115621
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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