A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003082



Internal ID18841642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10325257..10494058hg38UCSC Ensembl
Outerchr21:11018399..11187200hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38168802
hg19168802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151660
Supporting Variants
SamplesKWB1
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003082
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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