A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987069



Internal ID19205473
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 StatusS
Merged Variantsnsv1132300
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987069
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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