A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132300



Internal ID19282518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8797589..8813678hg38UCSC Ensembl
Outerchr1:143276800..143292800hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3816090
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987069
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132300
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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