A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984210



Internal ID19214066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18987732..18987790hg38UCSC Ensembl
Outerchr21:20360050..20360108hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126002
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984210
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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