A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976893



Internal ID19229264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9158367..9170367hg38UCSC Ensembl
Outerchr21:9997200..10009200hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124839
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976893
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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