A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128837



Internal ID19286293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8657567..8669967hg38UCSC Ensembl
Outerchr21:9546400..9558800hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3812401
hg1912401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961505
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128837
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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