A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979536



Internal ID18614738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39127163..39128361hg38UCSC Ensembl
Innerchr21:40499089..40500287hg19UCSC Ensembl
Innerchr21:39420959..39422157hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2248680, nssv2248682, nssv2248684, nssv2248677, nssv2248678, nssv2248683, nssv2248681, nssv2248685, nssv2248679, nssv2248686
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979536
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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