A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132545



Internal ID19260587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8522367..8548367hg38UCSC Ensembl
Outerchr21:9411200..9437200hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3826001
hg1926001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987328
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132545
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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